GM28077
Fibroblast from Skin, Skin
Description:
LEIGH SYNDROME; LS
SURFEIT 1; SURF1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases PIGI Consented Sample |
Biopsy Source
|
Skin
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Skin
|
Race
|
White
|
Country of Origin
|
AUSTRIA
|
Family Member
|
2
|
Family History
|
N
|
Relation to Proband
|
mother
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.37 |
Passage Frozen |
2 |
|
Gene |
SURF1 |
Chromosomal Location |
9q34.2 |
Allelic Variant 1 |
p.Tyr133Asp; LEIGH SYNDROME |
Identified Mutation |
c.397T>G (p.Tyr133Asp) |
Remarks |
Unaffected carrier; mother of affected son, GM28095 (fibro); whole exome sequencing revealed that this parent carries a heterozygous mutation in the SURF1 gene: c.397T>G (p.Tyr133Asp); son has compound heterozygous mutations in SURF1: c.397T>G (p.Tyr133Asp) and c.574_575insCTGC(p.Arg192Profs*8). |
Cumulative PDL at Freeze |
6.37 |
Passage Frozen |
2 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
3% |
Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Supplement |
- |
|
|