GM27995

GM27995 Fibroblast from Skin, Skin

Description:

ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME)
THAP DOMAIN CONTAINING 12

Affected:

No

Sex:

Female

Age:

32 YR (At Sampling)

Overview

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

Ethnicity

Not Hispanic/Latino

Ethnicity

German

Country of Origin

USA

Family Member

Family History

Relation to Proband

mother

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Whole genome sequencing revealed a heterozygous mutation in exon 3 of THAP12 (NM_004705) resulting in a missense variant c.312delA (p.Glu105AsnfsTer2); reads were aligned to human genome build 38 (hg38); 11:76360961 CT>C (hg38); 11:76072005 CT>C (hg19). Fibro is GM27995; affected daughter #1 is GM27991 (LCL) and GM27993 (fibro); affected daughter #2 is GM27988 (LCL) and GM27990 (fibro).