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Cellosaurus XP115KO (CVCL_ZM55)

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Cell line name XP115KO
Synonyms Xeroderma Pigmentosum 115 KOrea
Accession CVCL_ZM55
Resource Identification Initiative To cite this cell line use: XP115KO (RRID:CVCL_ZM55)
Comments Population: Korean.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:47; ABCB6; Simple; p.Asn467Ser (c.1400A>G); Zygosity=Heterozygous (PubMed=29330851).
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg579Ter (c.1735C>T); ClinVar=VCV000000259; Zygosity=Homozygous (PubMed=29330851).
Disease Dyschromatosis universalis hereditaria (NCIt: C173131)
Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Dyschromatosis universalis hereditaria (ORDO: Orphanet_241)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 11Y
Category Finite cell line
Publications

PubMed=29330851; DOI=10.1111/bjd.16339
Taro Masaki, Etsuji Nakano, Ken Okamura, Ryusuke Ono, Kaoru Sugasawa, Mu-Hyoung Lee, Tamio Suzuki, Chikako Nishigori;
A case of xeroderma pigmentosum complementation group C with diverse clinical features.
Br. J. Dermatol. 178:1451-1452(2018)

Cross-references
Encyclopedic resources Wikidata; Q98135224
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7