GM27997
Fibroblast from Skin, Skin
Description:
ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME)
THAP DOMAIN CONTAINING 12
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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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Skin
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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, Skin
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Scottish, English, Dutch, German
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Country of Origin
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USA
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Family Member
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4
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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 |
6.36 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
THAP12 |
| Chromosomal Location |
11q13.5 |
| Allelic Variant 1 |
p.Pro277Thr; ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME) |
| Identified Mutation |
c.829C>A (p.Pro277Thr) |
| Remarks |
Whole genome sequencing revealed a heterozygous mutation in THAP12 resulting in a frameshift variant c.829C>A (p.Pro277Thr); reads were aligned to human genome build 38 (hg38); 11:76352321 G>T (hg38); 11:76063365 G>T (hg19).
LCL is GM27996; affected daughter #1 is GM27991 (LCL) and GM27993 (fibro); affected daughter #2 is GM27988 (LCL) and GM27990 (fibro). |
| Cumulative PDL at Freeze |
6.36 |
| Passage Frozen |
3 |
| 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 |
- |
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