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Cellosaurus AG06971 (CVCL_V268)

[Text version]
Cell line name AG06971
Synonyms AG6971
Accession CVCL_V268
Resource Identification Initiative To cite this cell line use: AG06971 (RRID:CVCL_V268)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12814; XPA; Simple; p.Leu117Glufs*4 (c.349_353delCTTAT) (349del5); ClinVar=VCV000000994; Zygosity=Heterozygous (PubMed=9671271).
  • Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-12A>G; Zygosity=Heterozygous (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 1Y
Category Finite cell line
Publications

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994)

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; AG06971
Cell line databases/resources CLO; CLO_0035680
Encyclopedic resources Wikidata; Q54740475
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number14