GM28079
Fibroblast from Skin, Arm
Description:
LEIGH SYNDROME; LS
SURFEIT 1; SURF1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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Race
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White
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Country of Origin
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AUSTRIA
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Family Member
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3
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Family History
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N
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Relation to Proband
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father
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
7.72 |
| Passage Frozen |
3 |
| |
| Gene |
SURF1 |
| Chromosomal Location |
9q34.2 |
| Allelic Variant 1 |
p.Arg192Profs*8; LEIGH SYNDROME |
| Identified Mutation |
c.574_575insCTGC (p.Arg192Profs*8) |
| Remarks |
Unaffected carrier; father of affected son, GM28095 (fibro); whole exome sequencing revealed that this parent carries a heterozygous mutation in the SURF1 gene: c.574_575insCTGC (p.Arg192Profs*8); son has compound heterozygous mutations in SURF1: c.397T>G (p.Tyr133Asp) and c.574_575insCTGC(p.Arg192Profs*8). |
| Cumulative PDL at Freeze |
7.72 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| 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 |
- |
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