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Cellosaurus XP1AB (CVCL_ZQ05)

[Text version]
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
Broughton B.C., Cordonnier A.M., Kleijer W.J., Jaspers N.G.J., Fawcett H., Raams A., Garritsen V.H., Stary A., Avril M.-F., Boudsocq F., Masutani C., Hanaoka F., Fuchs R.P.P., Sarasin A., Lehmann A.R.
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