ID   XP5JO
AC   CVCL_L765
SY   Xeroderma Pigmentosum 5 JOhannesburg; GM02091; GM-2091; GM2091
DR   CLO; CLO_0031825
DR   BioSample; SAMN00807476
DR   Coriell; GM02091
DR   JCRB; KURB1029
DR   Wikidata; Q54837296
RX   CelloPub=CLPUB00447;
RX   PubMed=9671271;
CC   Population: African; Zulu.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Arg130Lys (c.389G>A); ClinVar=VCV000551153; Zygosity=Homozygous; Note=Affects splicing (PubMed=9671271).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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   31Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 29-06-23; Version: 16
//
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).
//
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., 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).
//