ID   XP2CA
AC   CVCL_L768
SY   Xeroderma Pigmentosum 2 CAiro; GM02991; GM2991
DR   CLO; CLO_0012580
DR   BioSample; SAMN00808199
DR   Coriell; GM02991
DR   Wikidata; Q54837791
RX   PubMed=7252263;
RX   PubMed=9671271;
CC   Population: Egyptian.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Thr125Ilefs*15 (c.374delC); ClinVar=VCV000267186; Zygosity=Homozygous (PubMed=9671271; Coriell=GM02991).
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   6Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 17
//
RX   PubMed=7252263; DOI=10.1111/1523-1747.ep12479271;
RA   Cleaver J.E., Zelle B., Hashem N., El-Hefnawi M.H., German J.L. 3rd;
RT   "Xeroderma pigmentosum patients from Egypt: II. Preliminary
RT   correlations of epidemiology, clinical symptoms and molecular
RT   biology.";
RL   J. Invest. Dermatol. 77:96-101(1981).
//
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).
//