ID   XPHF12BE
AC   CVCL_1F19
SY   Xeroderma Pigmentosum Heterozygote Female 12 BEthesda; GM05510; GM5510; GM 5510
DR   CLO; CLO_0024801
DR   Coriell; GM05510
DR   Wikidata; Q54839030
RX   CelloPub=CLPUB00447;
RX   PubMed=6096450;
RX   PubMed=7519740;
RX   PubMed=9671271;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (Coriell=GM05510).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1F20 ! XPHF12BE LCL
SX   Female
AG   44Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 30-01-24; Version: 15
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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).
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RX   PubMed=6096450; DOI=10.1111/1523-1747.ep12260999;
RA   Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.;
RT   "Use of lymphoblastoid cell lines to evaluate the hypersensitivity to
RT   ultraviolet radiation in Cockayne syndrome.";
RL   J. Invest. Dermatol. 82:480-484(1984).
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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).
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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).
//