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Cellosaurus XP5JO (CVCL_L765)

[Text version]
Cell line name XP5JO
Synonyms Xeroderma Pigmentosum 5 JOhannesburg; GM02091; GM-2091; GM2091
Accession CVCL_L765
Resource Identification Initiative To cite this cell line use: XP5JO (RRID:CVCL_L765)
Comments Population: African; Zulu.
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.Arg130Lys (c.389G>A); ClinVar=VCV000551153; Zygosity=Homozygous; Note=Affects splicing (PubMed=9671271).
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 31Y
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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.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; GM02091
JCRB; KURB1029
Cell line databases/resources CLO; CLO_0031825
Biological sample resources BioSample; SAMN00807476
Encyclopedic resources Wikidata; Q54837296
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number17