FISH

Else Kröner-Fresenius-sSMC-cellbank

Else Kröner-Fresenius-cellbank
for small supernumerary marker chromosomes

 

Between 2010 and 2013 the Else Kröner-Fresenius foundation sponsors the establishment of a cellbank for sSMC (applicants: Dr. Thomas Liehr, Jena and Dr. Marianne Volleth, Magdeburg, Germany).

All up to now established and in Jena collected cell lines are included on this page (see below).

For research purposes these cell lines are available on reqeust for free ().
We only ask for the covering the costs the thawing, cell culture and mailing of the lines.
At least citation of this cell bank and acknowledgment for providing the cell lines is expected in any published paper using any of these lines. 

 

The nomenclature for cell lines is complex and explained here

 

 

               
  EKF-cellline
case no. 		 GTG-banding result
grade of mosaicism
 		 final result of the sSMC clinical symptoms/
reference		 cellline of parents Identifier
(internal use)		  
  EKF-
#1-p11.1/
1-m		 47,XY,+mar[17]/
46,XY[3]		 min(1) see 01-CW-5 n.a. 12L0128  
  EKF-
#1-p11.1/
1-r		 in cell line: 47,XY,+r[3]/
46,XY[47]
interphase: 16 of 200 cells		 r(1)(::p11.1→q22::)
 array-CGH: 105.98-188.41MB
 r(1)(::p21.1→q31.1::)		 see 01-W-p11.1/3-1 n.a. 05P0749  
  EKF-
#1-p11.1/
1-m		 47,XX,+mar[12]/
46,XX[8]		 min(1)(:p11.1→q12:) see 01-O-p11.1/3-6 n.a. 12L0084  
  EKF-
#2-N/
1-r		 47,XX,del(2)(q22q32.2),
+r(2)(q22q32.2)[81]/
46,XX,
del(2)(q22q32.2)[9]		 n.a. see McCl-02-N-q35/1-1 EKF-#2-N/1-Mother;
EKF-#2-N/1-Father		 05P0417
05P0418
05P0419		  
  EKF-
#2-p11.1/
1-m		 47,XX,+mar[17]/
46,XX[26]		 min(2)(:p11.1→q11.2:) 
 FISH-data: RP11-708D7: 95.0 MB
aCGH: 91.27-99.97		 see 02-O-p11.1/5-1 n.a. 12L0052  
  EKF-
#2-p11.1/
2-m		 47,XX,+mar[15%]/
46,XX[85%]		 min or r(2)(:p11.1→q11.2:) 
 FISH-data: RP11-708D7: 95.0 MB		 see 02-O-p11.1/5-2 n.a. 12L0107  
  EKF-
#2-p11.2/
1-m		 in cell line: 47,XY,+mar[1]/
46,XY[60]
interphase: 3 of 200 cells
 		 min(2)(:p11.2→q11.1:) 
FISH-data: RP11-303I4 (80.7MB); RP11-316G9 (89.7MB); RP11-271A22 = AC128677.4 (91.5MB)  on sSMC		 see 02-W-p11.2/1-2 n.a. 2010B113  
  EKF-
#2-p11.2/
2-m/r		 in cell line: 47,XY,+mar[6]/
46,XY[44]
interphase: 22 of 189 cells
 		 r(2)(::p11.1→q12.1::) 
91.01-101.58 MB
array: r(2)(::p11.2→q12.1::) 		 see 02-O-p11.2/1-1 n.a. 06P0793  
  EKF-
#3-p12.1/
1-m/r		 47,XX,+mar[17%]/
46,XX[83%]		 r(3)(::p12.1→q11.1::)[14]/ min(3)(:p12.1→q11.1:)[5]/ min(3)(:p12.1→q11.1:
:q11.1→p12.1:)[2]
 FISH-data: RP11-91A15 (89.6 MB) on sSMC		 see 03-O-p12.1/2-2 n.a. 07PO736  
  EKF-
#5-p13.2/
1-m		 47,XY,+mar[24]/
46,XY[6]		 min(5)(::p13.2→q11.1::)
FISH-data:  break in p-arm between: 37.00-37.18 MB		 see 05-W-p13.2/2-1 n.a. 12L0054  
  EKF-
#5-p13.2/
1-r		 47,XY,+mar[7]/
46,XY[3]		 r(5)(::p13.2→q11.1::)[9]/
r(5;5)(::p13.2→q11.1:
:p13.2→q11.1::)[1]		 see 05-W-p13.2/1-1 n.a. 12L0135  
  EKF-
#5-p12/
1-m		 47,XX,+mar[100%] min(5)(:p12→q11.1:)
FISH-data: RP11-19F12 (41.24MB) on sSMC		 see 05-O-p12/1-1 n.a. 12L0077  
  EKF-
#5-p11/
1-m		 47,XX,+mar[100%] min(5)(:p11→q11.1:) see 05-O-p11/3-1 n.a. 2009B119  
  EKF-
#6-p11.1/
1-m		 48,XY,+marx2[59]/
47,XY,+mar[25]
46,XY[40]		 min(6)(:p11.1→q12:) see 06-W-p11.1/1-1 n.a. 05P0223  
  EKF-
#6-p11.1/
2-i		 in cell line: 47,XY,+mar[1]/
46,XY[129]
interphase: 21 of 180 cells		 dic(6;6)(:p11→q11::p11→q11:) see 06-O-p11.1/2-1 n.a. 11L013  
  EKF-
#7-p11.2/
1-m		 47,XX,+mar[15] min(7)(:p11.2→q11.1:)
 FISH-data: RP11-10F11 (56.45 MB) on sSMC
aCGH: 45.07-64.85
 maternal (iso-)disomy  UPD 7		 see 07-U-14 n.a. 12L0080  
  EKF-
#7-p11.2/
2-m		 47,XX,+mar[100%] min(7)(:p11.2→q11.1:)
FISH-data: RP11-10F11 (56.45 MB)		 see 07-O-p11.2/2-1 n.a. 12L0130  
  EKF-
#7-p11.1/
1-r		 47,XX,+mar[26]/
46,XX[14]		 r(7)(:p11.1→q11.21:)[15]/
r(7;7)(:p11.1→q11.21:
:p11.1→q11.21:)[4]/
r(7;7;7;7)
(:p11.1→q11.21:
:p11.1→q11.21:
:p11.1→q11.21:
:p11.1→q11.21:)[1]
 FISH-data: RP11-3N2  (63.22 MB) on sSMC		 see 07-W-p11.1/2-1  n.a. 12L0102  
  EKF-
#7-p11.1/
1-m		 47,XX,+mar[50%]/
46,XX[50%]		 min(7)(:p11.1→q11.1:) see 07-W-p11.1/1-1 n.a. 06PO708  
  EKF-
#7-p11.2/
1-m/r		 47,XX,+mar[13]/
46,XX[3]		 min(7)(:p11.2→
q11.21:)[5]/
r(7)(::p11.2→q11.21::)[2]/
r(7;7)(::p11.2→q11.21:
:p11.2→q11.21::)[1]
55.42-63.45 MB		 see 07-W-p11.2/1-2 EKF-#7-
p11.2/1-
Mother;
EKF-#7-
p11.2/1-
Father		 05P0529
05P0530
05P0531		  
  EKF-
#8-p11.1/
1-m		 47,XY,+mar[70%]/
46,XY[30%]		 min(8)(:p11.1→q11.23:)
 FISH-data: RP13-116A4 at 48.3MB on sSMC
Array: 43.19-54.86 MB		 see
08-W-p11/2-1		 EKF-#8-p11.1/1-Mother 07PO598
07PO596		  
  EKF-
#8-p11.21~
11.22/
1-r		 47,XY,+mar[100%] r(8)(::p11.21~11.22→q11.1::)
 FISH-data:
42.5-49.5 MB		 see
08-W-p11.21~
11.22/1-1		 EKF-#8-
p11.21~
11.22/1-
Mother; EKF-#8-
p11.21~
11.22/1-
Father		 2008B113
2008B112
2008B113		  
  EKF-
#9-p12/
1-m/r		 47,XY,+mar[90%]/
46,XY[10%]		 r(9)(::p12→q12::)[8]/
min(9)(:p12→q12:)[5]/
r(9;9)(::p12→q12:
:p12→q12::)[2]		 see 09-O-p12/3-2 n.a. 2009B022  
  EKF-
#9-p12/
1-r		 47,XY,+r[22%]/
46,XY[78%]		 r(9)(::p12→q12::) see 09-O-p12/4-1 n.a. 12L0117  
  EKF-
#13/21-q11/
1-i		 48,XY,+21,+mar[100%] inv dup(13or21)(q10) see +21-U-38 EKF-
#13/21-q11/
1-Father		 2010B211
2010B212		  
  EKF-
#13/21-q11/
2-i		 47,XX,+mar pat[100%] inv dup(13or21)(q10) see
13/21-O-q10/1-16		 EKF-
#13/21-q11/
2-Father		 12L0113
12L0114		  
  EKF-
#14-q11.1/
1-i		 47,XX,+mar[52%]
46,XX[48%]		 inv dup(14)(q11.1) see 14-O-q11.1/1-10 n.a. 06P0430  
  EKF-
#14-q11.1/
2-i		 47,XX,+mar[100%] inv dup(14)(q11.1) see 14-O-q11.1/1-14 n.a. 07PO567  
  EKF-
#14-q11.1/
3-i		 47,XY,+mar[100%] inv dup(14)(q11.1) see 14-O-q11.1/1-29 n.a. 11L004  
  EKF-
#14-q11.1/
4-i		 47,XX,+mar[7]/
46,XX[23]		 inv dup(14)(q11.1) see 14-O-q11.1/1-31 n.a. 12L0086  
  EKF-
#14-q11.1/
5-i		 47,XY,+mar[100%] inv dup(14)(q11.1) see 14-O-q11.1/1-11 n.a. 12L0134  
  EKF-
#15-N/
1-i		 47,XX,+mar[4]/
46,XX[46]		 inv dup(15)(qter→q24.1:
:q24.1→qter)		 see 15-N-qt23/1-2 n.a. 05P0753  
  EKF-
#15-q10/
1-i		 47,XY,+mar[100%] inv dup(15)(q10) see 15-O-q10/1-7 n.a. 12L0090  
  EKF-
#15-q11/
1-m		 47,XX,+mar[100%] min(15)(:p11→q11:) see 15-O-q11/4-2 n.a. 12L0087  
  EKF-
#15-q11/
1-i		 47,XY,+mar[20]/
46,XY[80]		 inv dup(15)(q11) see 15-O-q11/1-1 n.a. 12L0105  
  EKF-
#15-q11.1/
1-r		 47,XX,+mar[13]/
46,XX[11] 		 r(15)(::p11.1→q11.1::) see 15-W-q11.1/1-1 n.a. 12L0094  
  EKF-
#15-q11.1/
1-m		 47,XX,+mar[35%]/
46,XX[65%]		 min(15)(:p11.1→q11.1:) see 15-U-24 n.a. 12L0123  
  EKF-
#15-q11.1/
1-i		 47,XX,+mar[100%] inv dup(15)(q11.1) see 15-O-q11.1/1-22 n.a. 07PO019  
  EKF-
#15-q11.1/
2-i		 47,XX,+mar[30%]/
46,XX[70%]		 inv dup(15)(q11.1) see 15-O-q11.1/1-10 n.a. 12L0091  
  EKF-
#15-q11.1/
3-i		 47,XX,+mar[100%] inv dup(15)(q11.1) see 15-O-q11.1/1-21 n.a. 12L0112  
  EKF-
#15-q11.1/
4-i		 47,XX,+mar[35]/
46,XX[20]		 inv dup(15)(q11.1) see 15-O-q11.1/1-65 n.a. 12L0124  
  EKF-
#15-q11.1-
q13/
1-i		 47,XX,+mar[25%]/
46,XX[75%]		 der(15)(:q14→q13:
:q14→p11.1:
:p11.1→q14:
:q13→q14:)
 FISH-data: UBE3A at 23.2MB on sSMC		 see
15-W-q14/4-1		 EKF-#15-
q11.1-
q13/1-
Mother;
EKF-#15-
q11.1-
q13/1-
Father		 2009B052
2009B050
2009B051		  
  EKF-
#15-q11.2/
1-i		 47,XY,+mar[?%]/
46,XY[?%]		 inv dup(15)(q11.2) see 15-O-q11.2/1-6 n.a. 2008B026  
  EKF-
#15-q11.2/
2-i		 47,XY,+mar[100%] inv dup(15)(q11.2)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC		 see 15-O-q11.2/1-8 n.a. 2009B096  
  EKF-
#15-q11.2/
3-i		 47,XY,+mar[100%] inv dup(15)(q11.2)
 FISH-data:  RP11-307C10 at 20.6MB on sSMC; RP11-131I21 at 22.73Mb not on sSMC		 see 15-O-q11.2/1-13 n.a. 12L0101  
  EKF-
#15-q11.2
~12/
1-i		 47,XX,+mar[87%]/
46,XX[13%]		 inv dup(15)(q11.2~q12) see
15-O-q11.2 ~12/1-2		 n.a. 06P0226  
  EKF-
#16-p11.1/
1-m		 47,XY,+r[?%] min(16)(:p11.1→q12.1:) see 16-O-p11.1/4-2 n.a. 06PO100 2005B290  
  EKF-
#18-pter/
1-i		 47,XX,+mar[30] i(18p)
pter-0.36MB of q-arm		 see 18-Wi-139 n.a. 12L0053  
  EKF-
#18-p11.21/
1-m		 47,XY,+mar[21]/
46,XY[2]		 FISH: min(18)(:p11.21→q11.1:)
array + FISH: min(18)(:p11.22→p11.21:)
FISH-data: RP11-151D11(13.08MB) on sSMC
array: 13.99MB - centromere		 see 18-O-p11.21/1-2 n.a. 05P0294  
  EKF-
#18-p11.21/
2-m		 47,XX,+mar[26]/
46,XX[14]		 FISH: min(18)(:p11.21→q11.1:)
 breakpoint  in 18p between  clone RP11-794M8 (13.03MB) and RP11-411B10 (13.99MB)		  see 18-O-p11.21/1-3 n.a. 12L0132   
  EKF-
#18compl#8/
1-m		 47,XY,+mar[100%] der(18)t(8;18)(p23.2~23.1;q11.1) see 18-U10 n.a. 06P0222  
  EKF-
#18-q11.1/
1-i		 47,XY,+mar[100%] i(18)(p10) see 18-Wi-143 EKF-#18-
q11.1/1-
Mother; EKF-#18-
q11.1/1-
Father		 2007B279
2007B277
2007B278		  
  EKF-
#19-p13.1/
1-m		 47,XY,+mar[19]/
46,XY[11]		 min(19)(:p13.11~13.12→q12:) see 19-W-p13.1/3-1  n.a. 12L0085  
  EKF-
#19-p13.11/
1-m		 47,XX,+mar[10]/
46,XX[30]		 min(19)(:p13.11→q12:) 
FISH-data:
26.7-at least to 33.3MB		 see 19-U-7 n.a. 05P0067  
  EKF-
#19-p13.11/
2-r		 47,XX,+mar[60%]/
46,XX[40%]		 min(19)(:p13.11→q11:)[3]/
r(19)(::p13.11→q11::)[9]/
r(19)(::p13.11→q11:
:p13.11→q11::)[2]
FISH-data: RP11-22G10 (22.98MB) on sSMC
aCGH: 17.50-33.59		 see 19-O-p13.11/3-1 n.a. 2008B073  
  EKF-
#19-p12/
1-m		 47,XY,+mar[60-90%]/
46,XY[40-10%]		 min(19)(:p12→q12:)
 size in p 2.59MB (= position 25.91 MB) , in q 2.3 MB (= position 32.4MB)		 see 19-W-p12/2-1 n.a. 12L0089  
  EKF-
#19-p12/
2-m		 47,XY,+mar[23]/
46,XY[7]		 min(19)(:p12→q13.11~13.12:)
size in p: RP11-22G10 in subcenM present on sSMC (22.98 MB - no signal in p on array), in q according to array: sSMC goes to 36.3 MB		 see 9-W-p12/5-1 n.a. 12L0127  
  EKF-
#19-p11.1/
1-m		 47,XX,+mar[25]/
46,XX[75]		 min(19)(:p11.1→q13.1:)
FISH-data: RP11-14D17 (36.90MB) on sSMC		 see 19-O-p11/1-1 n.a. 05P0277  
  EKF-
#21-q21.1
1-i		 47,XY,+mar[31] inv dup(21)(q11.2)
FISH-data: RP11-89H21 (14.85MB) on sSMC		 see 21-O-q11.2/2-1 n.a. 12L0092  
  EKF-
#21-q11.2~
21.1/
1-m		 47,XY,+mar[5]/
46,XY[10]		 min(21)(pter→q11.2~21.1:) see
21- W-q11.2~
21.1/ 1-2		 EKF-#21-
q11.2~21.1/1-Mother;
EKF-#21-
q11.2~21.1/1-Father

06P0503 06P0503-A
07P0283
07P0284

  
  EKF-
#22-q11.1/
1-m		 47,XX,+mar[11]/
46,XX[39]		 min(22)(:p11.1→q11:)
 maternal UPD 22		 see
22-O-q11/2-1		 n.a. 12L0093  
  EKF-
#22-q11.1/
1-i		 47,XX,+mar[100%] inv dup(22)(q11.1) see 22-O-q11.1/1-11 n.a. 2007B188
07PO490		  
  EKF-
#22-q11.1/
2-i		 47,XY,+mar[100%] inv dup(22)(q11.1) see 22-O-q11.1/1-14 n.a. 2008B140  
  EKF-
#22-q11.1/
3-i		 47,XY,+mar[100%] inv dup(22)(q11.1) see 22-O-q11.1/1-13 n.a. 2008B136  
  EKF-
#22-q11.1/
4-i		 47,XX,+mar[100%] inv dup(22)(q11.1) see 22-O-q11.1/1-21 n.a. 2008B246  
  EKF-
#22-q11.1/
5-i		 47,XY,+mar[100%] inv dup(22)(q11.1) see 22-O-q11.1/1-17 n.a. 2009B106  
  EKF-
#22-q11.1/
6-i		 47,XX,+mar[100%] inv dup(22)(q11.1) see 22-O-q11.1/1-22 EKF-#22-q11.1/
 /6-Mother;		 12L0104
12L0103		  
  EKF-
#22-q11.1/
7-i		 47,XY,+mar[100%] inv dup(22)(q11.1) see 22-O-q11.1/1-38 n.a. 11L351  
  EKF-
#22-q11.1/
8-i		 47,XY,+mar[100%] inv dup(22)(q11.1) see 22-O-q11.1/1-23 EKF-#22-q11.1/
 /8-Mother;		 12L0108
12L0109		  
  EKF-
#22-q11.1/
9-i		 47,XY,+mar mat[100%] inv dup(22)(q11.1) see 22-O-q11.1/1-33 EKF-#22-q11.1/
 /9-Mother;		 12L0115
12L0116		  
  EKF-
#22-q11.1/
10-i		 47,XX,+mar[100%] inv dup(22)(q11.1) see 22-W-q11.1/1-5 n.a. 12L0118  
  EKF-
#22-q11.1/
11-i		 47,XX,+mar[100%] inv dup(22)(q11.1) see 22-O-q11.1/1-31 n.a. 12L0121  
  EKF-
#22-q11.21/
1-i		 47,XX,+mar[100%] inv dup(22)(q11.21) see
22-Wces-5-93		 n.a. 05PO209  
  EKF-
#22-q11.21/
2-i		 47,XY,mar[100%] inv dup(22)(q11.21) see 22-O-q11.21/2-1 n.a. 12L0088  
  EKF-
#22-q11.21/
3-i		 47,XY,+mar[28]/
46,XY[2]		 inv dup(22)(q11.21) see 22-Wces-5-112 n.a. 12L0111  
  EKF-
#22-q12.1/
1-m		 47,XY,+mar[22]/
46,XY[6]		 min(22)(pter→q12.1:)
FISH-data:
pter to 24.6MB		 see 22-W-q12.1/1-1 n.a. 06P0775  
  EKF-
#22compl#11/
1-m		 47,XX,+mar[100%] der(22)t(11;22)
(q23;q11.2)		 see
22-Wder-143		 EKF-#22compl#11
/1-Mother;
EKF-#22compl#11/1-Father;		 12L0098 12L0099 12L0100  
  EKF-
Y-q11.22/
1-i		 45,X[8]/
46,X,der(Y) [50]		 inv dup(Y)(q11.22) see
m-iY-q11.22/1-3		 n.a. 12L0110  
  EKF-
mult#4-#18/
1-i/m		 48,XX,+mar1,+mar2[101]/
47,XX,+mar1[38]/
47,XX,+mar2[29]/
46,XX[5]		 min(4)(:p12→q12:); r(18)(::p11.21→q11.2:
:p11.21→q11.2::)[2]/
inv dup(18)(:p11.1→q11.1:
:q11.1→p11.1:)[4]/
min(18)(:p11.21→q11.1:
:q11.1→p11.1:)[4]
 chr 4: 48.34-59.71
chr. 18: 13.17-18.73		 see
mult 2-18		 n.a. 05P0163  
  EKF-
mult#5-#6/
1-m/r		 49,XX,+3mar[1]/
48,XX,+2mar[10]/
47,XX,+mar[9]/
46,XX[3]		 r(5)(::p11→q11.1:
:q12→13.1~3::)
40.66MB to 47.10MB 
 min(6)(:p11.1→q11.2:);
57.10MB to 64.87MB		 see
mult 2-19		 n.a. 2010B194  
  EKF-
mult#8-#21/
1-m/r		 49,XY,mar2x2[7]/
48,XY,mar1,mar2[52]/
47,XY,mar1[37]/
46,XY[4]		 r(8)(:p12→q11.1:
:q11.1→p21.1:),
min(8)(:p11.22→q11.21:
:q11.21→p21.1::p21.1→
p11.22:) [70%],
min(21)(:p11.1→q21.3:) [30%]
 chr 8: 28.63-48.74 MB
chr 21: 13.30-28.90 MB		 see
mult 2-21		 n.a. 05P0208  
  EKF-mult
#1-#3-#11-
#14-#20-#21-X/
1-m/r		 49-53,XY,+mar1-7[100%] r(11) in ~84%
?r(1) in ~90%
?r(3) in ~80%
min(X) in ~88%
min(20) in ~74%
min(14) in ~94%
min(21) in ~83%		 see
mult 7-1		 n.a. 165014
(provided by Drs. Fryns and Vermeesch. Leuven Belgium)		  
  EKF-
mult#4-#8-#11/
1-r		 49,XY,+3mar[13]/
48,XY,+2mar[22]/
47,XY,+mar[23]/
46,XY[2]		 r(4)(::p12→q12::)
r(8)(::p11.21→q11.21::)
r(11)(::p11.12→q11.1::)		 see
mult 3-5		 EKF-mult#4-
#8-#11/1-
Mother; EKF-mult#4-
#8-#11/1-
Father		 2010B110
1010B108
2010B109		  
  EKF-
N/
1-i		 47,XY,+mar[100%] mar stains only with a reverse painting probe of itself see
u-W-1		 n.a. (provided by Dr. Caroline Mackie Ogilvie, UK)  
               

 

 

 

Nomenclature of the cell lines in the Else Kröner-Fresenius cellbank

 

Explanation using following example: EKF-#1-p11.1/1-r

EKF Else Kröner-Fresenius-foundation
 #1 to #22, X, Y chromosome sSMC is derived from
p11.1 distal chromosomal breakpoint
 /1  number of case(es) with identical breakpoints
 i/m/r  shape of sSMC as inverted duplicated, centric minute or ring

 

other abbreviations used:

compl                 
 complex (rearranged) sSMC                                                   
mult multiple sSMC
N neocentric