ID   XP183MA
AC   CVCL_V274
SY   Xeroderma Pigmentosum 183 MAnnheim; GM21072
DR   CLO; CLO_0015394
DR   Coriell; GM21072
DR   Wikidata; Q54851623
RX   PubMed=16947863;
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Gln545Ter (c.1633C>T); ClinVar=VCV000016588; Zygosity=Heterozygous (PubMed=16947863).
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Gln739fs*42 (c.2218-6C>A) (IVS14-6C>A); Zygosity=Heterozygous (PubMed=16947863).
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)
SX   Female
AG   10Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 14
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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).
//