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Cellosaurus XP2PD (CVCL_L759)

[Text version]
Cell line name XP2PD
Synonyms GM02010; GM-2010; GM2010
Accession CVCL_L759
Resource Identification Initiative To cite this cell line use: XP2PD (RRID:CVCL_L759)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12814; XPA; Simple; p.Cys108Phe (c.323G>T); ClinVar=VCV000000993; Zygosity=Heterozygous (PubMed=9671271; Coriell=GM02010).
  • Mutation; HGNC; 12814; XPA; Simple; p.Leu117Glufs*4 (c.349_353delCTTAT) (349del5); ClinVar=VCV000000994; Zygosity=Heterozygous (PubMed=9671271; Coriell=GM02010).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6
States J.C., McDuffie E.R., Myrand S.P., McDowell M., Cleaver J.E.
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
Hum. Mutat. 12:103-113(1998)

Cross-references
Cell line collections (Providers) Coriell; GM02010
Cell line databases/resources CLO; CLO_0032300
Biological sample resources BioSample; SAMN00807382
Encyclopedic resources Wikidata; Q54837235
Entry history
Entry creation06-May-2013
Last entry update30-Jan-2024
Version number17