ID   XPHM1WI LCL
AC   CVCL_1F23
SY   GM07690
DR   CLO; CLO_0016369
DR   Coriell; GM07690
DR   Wikidata; Q54842866
RX   CelloPub=CLPUB00447;
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (Coriell=GM07690).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1F08 ! XPHM1WI
SX   Female
AG   33Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 18
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//