ID   XPCS1BA(SV)
AC   CVCL_ZP29
DR   Wikidata; Q98136277
RX   PubMed=9012405;
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Phe99Ser (c.296T>C); ClinVar=VCV000016583; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Lys157insThrSerAspSerTer (c.471+1G>A); ClinVar=VCV000016589; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156031; Xeroderma pigmentosum-Cockayne syndrome complex
DI   ORDO; Orphanet_220295; Xeroderma pigmentosum-Cockayne syndrome complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_V271 ! XPCS1BA
SX   Male
AG   39Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=9012405; PMCID=PMC1712398;
RA   Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O.,
RA   Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.;
RT   "A mutation in the XPB/ERCC3 DNA repair transcription gene, associated
RT   with trichothiodystrophy.";
RL   Am. J. Hum. Genet. 60:320-329(1997).
//