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Cellosaurus XP207SF (CVCL_ZU54)

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Cell line name XP207SF
Synonyms Xeroderma Pigmentosum 207 San Fransisco
Accession CVCL_ZU54
Resource Identification Initiative To cite this cell line use: XP207SF (RRID:CVCL_ZU54)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Asp121Alafs*26 (c.362delA) (A362del-1); ClinVar=VCV002679647; Zygosity=Heterozygous (from autologous cell line XP207SF LCL).
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Glu149Lysfs*18 (c.441_442GA[2]) (c.444_445delAG) (c.445_446delGA) (GA444,445 del-2); ClinVar=VCV000557065; Zygosity=Heterozygous (from autologous cell line XP207SF LCL).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZU55 ! XP207SF LCL
Sex of cell Female
Age at sampling 2Y
Category Finite cell line
Publications

PubMed=16990803; DOI=10.1038/sj.jid.5700555; PMCID=PMC3031115
James Edward Cleaver, Luzviminda Feeney, Jean Y. Tang, Peggy Tuttle;
Xeroderma pigmentosum group C in an isolated region of Guatemala.
J. Invest. Dermatol. 127:493-496(2007)

Cross-references
Encyclopedic resources Wikidata; Q98135504
Entry history
Entry creation02-Jul-2020
Last entry update10-Apr-2025
Version number10