ID   XP33BR LCL
AC   CVCL_V275
SY   Xeroderma Pigmentosum 33 BRighton LCL; GM21148
DR   CLO; CLO_0015848
DR   Coriell; GM21148
DR   Wikidata; Q54851701
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Phe99Ser (c.296T>C); ClinVar=VCV000016583; Zygosity=Heterozygous (Coriell=GM21148).
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Arg425Ter (c.1273C>T); ClinVar=VCV000016585; Zygosity=Heterozygous (Coriell=GM21148).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3966; Xeroderma pigmentosum, complementation group B
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_V273 ! XP33BR
SX   Female
AG   44Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 15
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