GM25594
LCL from B-Lymphocyte
Description:
POTOCKI-LUPSKI SYNDROME; PTLS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities PIGI Consented Sample |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Celtic
|
Country of Origin
|
USA
|
Family Member
|
4
|
Family History
|
N
|
Relation to Proband
|
grandfather
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY[24].arr[hg19] 17q21.31q25.3(41,367,400-81,049,726) hmz
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Unaffected; was in special education program in school; microarray analysis revealed a region of homozygosity on 17q; father of affected daughter (GM25586) and grandfather of affected grandson (GM25585). |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
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