ID   XP19BE LCL
AC   CVCL_H144
SY   Xeroderma Pigmentosum 19 BEthesda LCL; XP1WI LCL; GM02344; GM-2344; GM02344A
DR   CLO; CLO_0033114
DR   BioSample; SAMN00807725
DR   Coriell; GM02344
DR   Wikidata; Q54837451
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Homozygous; Note=Also produces mis-splicing (Coriell=GM02344).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_H143 ! XP19BE
SX   Male
AG   3Y6M
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 19
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//