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 K.-S., Khan S.G., Jaspers N.G.J., Raams A., Ueda T., Lehmann A.R.,
RA   Friedmann P.S., Emmert S., Gratchev A., Lachlan K., Lucassan A.,
RA   Baker C.C., Kraemer K.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).
//