ID   AG06971
AC   CVCL_V268
SY   AG6971
DR   CLO; CLO_0035680
DR   Coriell; AG06971
DR   Wikidata; Q54740475
RX   CelloPub=CLPUB00597;
RX   PubMed=9671271;
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Leu117Glufs*4 (c.349_353delCTTAT) (349del5); ClinVar=VCV000000994; Zygosity=Heterozygous (PubMed=9671271).
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-12A>G; Zygosity=Heterozygous (PubMed=9671271).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 14
//
RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//
RX   PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6;
RA   States J.C., McDuffie E.R., Myrand S.P., McDowell M.L., Cleaver J.E.;
RT   "Distribution of mutations in the human xeroderma pigmentosum group A
RT   gene and their relationships to the functional regions of the DNA
RT   damage recognition protein.";
RL   Hum. Mutat. 12:103-113(1998).
//