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Cellosaurus XP1MA (CVCL_ZR22)

[Text version]
Cell line name XP1MA
Synonyms Xeroderma Pigmentosum 1 MAnnheim
Accession CVCL_ZR22
Resource Identification Initiative To cite this cell line use: XP1MA (RRID:CVCL_ZR22)
Comments Population: Caucasian; Italian.
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.Asn359Valfs*32 (c.1075_1244del170) (Ex10del); Zygosity=Homozygous (PubMed=14705792).
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 Female
Age at sampling 26Y
Category Finite cell line
Publications

PubMed=7161312; DOI=10.1007/BF00406246
Thielmann H.W., Popanda O., Edler L.
XP patients from Germany: correlation of colony-forming ability, unscheduled DNA synthesis and single-strand breaks after UV damage in xeroderma pigmentosum fibroblasts.
J. Cancer Res. Clin. Oncol. 104:263-286(1982)

PubMed=7165374; DOI=10.1007/BF00403726
Fischer E., Thielmann H.W., Neundorfer B., Rentsch F.J., Edler L., Jung E.G.
Xeroderma pigmentosum patients from Germany: clinical symptoms and DNA repair characteristics.
Arch. Dermatol. Res. 274:229-247(1982)

PubMed=2054785
Thielmann H.W., Popanda O., Edler L., Jung E.G.
Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany.
Cancer Res. 51:3456-3470(1991)

PubMed=14705792; DOI=10.1034/j.1600-0625.2003.00124.x
Gratchev A., Strein P., Utikal J.S., Goerdt S.
Molecular genetics of xeroderma pigmentosum variant.
Exp. Dermatol. 12:529-536(2003)

Cross-references
Cell line collections (Providers) JCRB; KURB1282
Encyclopedic resources Wikidata; Q98135456
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7