ID   XPCSH4BA
AC   CVCL_1F28
SY   Xeroderma Pigmentosum/Cockayne Syndrome Heterozygote 4 BAsel; GM13027
DR   CLO; CLO_0014004
DR   BioSample; SAMN00802026
DR   Coriell; GM13027
DR   Wikidata; Q54846270
RX   PubMed=16947863;
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Lys157insThrSerAspSerTer (c.471+1G>A); ClinVar=VCV000016589; Zygosity=Heterozygous (PubMed=16947863).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   63Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 12
//
RX   PubMed=16947863; DOI=10.1002/humu.20392;
RA   Oh, Kyu-Seon
RA   Khan, Sikandar G.
RA   Jaspers, Nicolaas G.J.
RA   Raams, Anja
RA   Ueda, Takahiro
RA   Lehmann, Alan Robert
RA   Friedmann, Peter Simon
RA   Emmert, Steffen
RA   Gratchev, Alexei
RA   Lachlan, Katherine
RA   Lucassan, Anneke
RA   Baker, Carl C.
RA   Kraemer, Kenneth H.
RT   "Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3):
RT   xeroderma pigmentosum without and with Cockayne syndrome.";
RL   Hum. Mutat. 27:1092-1103(2006).
//