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Cellosaurus XP1AB (CVCL_ZQ05)

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Cell line name XP1AB
Synonyms Xeroderma Pigmentosum 1 ABerdeen
Accession CVCL_ZQ05
Resource Identification Initiative To cite this cell line use: XP1AB (RRID:CVCL_ZQ05)
Comments Population: Caucasian; Scottish.
Caution: The p.Ser548Ter (c.1643C>A) variant is incorrectly reported as p.Thr548Ter (c.1543C>A) in PubMed=11773631.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9181; POLH; Simple; p.Leu77del (c.222_224TCT[1]) (c.225_227delTCT) (L75del); ClinVar=VCV000005893; Zygosity=Heterozygous (PubMed=11773631).
  • Mutation; HGNC; HGNC:9181; POLH; Simple; p.Ser548Ter (c.1643C>A); Zygosity=Heterozygous (PubMed=11773631).
Disease Xeroderma pigmentosum variant type (NCIt: C141367)
Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling 51Y
Category Finite cell line
Publications

PubMed=11773631; DOI=10.1073/pnas.022473899; PMCID=PMC117388
Bernard C. Broughton, Agnes M. Cordonnier, Wim J. Kleijer, Nicolaas G.J. Jaspers, Heather Fawcett, Anja Raams, Victor H. Garritsen, Anne Stary, Marie-Francoise Avril, Francois Boudsocq, Chikahide Masutani ...Show all 15 authors... , Fumio Hanaoka, Robert P.P. Fuchs, Alain Sarasin, Alan Robert Lehmann; Show fewer authors
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
Proc. Natl. Acad. Sci. U.S.A. 99:815-820(2002)

Cross-references
Encyclopedic resources Wikidata; Q98135395
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8