ID   GM28257
AC   CVCL_B0IH
DR   Coriell; GM28257
DR   Wikidata; Q108820322
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Glu13Ter (c.37G>T); ClinVar=VCV000001716; Zygosity=Heterozygous (Coriell=GM28257).
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; c.173+1G>A; ClinVar=VCV000554440; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM28257).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C135725; Cockayne syndrome type A
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 23-09-21; Last updated: 10-04-25; Version: 8
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