ID   XP12BESV
AC   CVCL_F118
SY   XP12BE (SV40); GM04429; GM4429; GM4429A; GM04429E
DR   CLO; CLO_0019690
DR   Coriell; GM04429
DR   Wikidata; Q54838526
RX   CelloPub=CLPUB00447;
RX   PubMed=6684957;
RX   PubMed=7519740;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; c.507-1G>T (IVS3-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM04429).
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (Coriell=GM04429).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
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)
HI   CVCL_F119 ! XP12BE
SX   Female
AG   10Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 23
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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).
//
RX   PubMed=6684957; DOI=10.1007/BF01172877;
RA   Kuhnlein U., Tsang S.S., Lokken O., Tong S., Twa D.;
RT   "Cell lines from xeroderma pigmentosum complementation group A lack a
RT   single-stranded-DNA-binding activity.";
RL   Biosci. Rep. 3:667-674(1983).
//
RX   PubMed=7519740; DOI=10.1016/0165-7992(94)90014-0;
RA   Jones C.J., Lloyd R.S., Wood R.D.;
RT   "Analysis of cells harboring a putative DNA repair gene reveals a lack
RT   of evidence for a second independent xeroderma pigmentosum group A
RT   correcting gene.";
RL   Mutat. Res. 324:159-164(1994).
//