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Cellosaurus XP2CA (CVCL_L768)

[Text version]
Cell line name XP2CA
Synonyms Xeroderma Pigmentosum 2 CAiro; GM02991; GM2991
Accession CVCL_L768
Resource Identification Initiative To cite this cell line use: XP2CA (RRID:CVCL_L768)
Comments Population: Egyptian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12814; XPA; Simple; p.Thr125Ilefs*15 (c.374delC); ClinVar=VCV000267186; Zygosity=Homozygous (PubMed=9671271; Coriell=GM02991).
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 6Y
Category Finite cell line
Publications

PubMed=7252263; DOI=10.1111/1523-1747.ep12479271
Cleaver J.E., Zelle B., Hashem N., El-Hefnawi M.H., German J.L. 3rd
Xeroderma pigmentosum patients from Egypt: II. Preliminary correlations of epidemiology, clinical symptoms and molecular biology.
J. Invest. Dermatol. 77:96-101(1981)

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.L., 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; GM02991
Cell line databases/resources CLO; CLO_0012580
Biological sample resources BioSample; SAMN00808199
Encyclopedic resources Wikidata; Q54837791
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number17