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Cellosaurus XP132BE (CVCL_M319)

[Text version]
Cell line name XP132BE
Synonyms Xeroderma Pigmentosum 132 BEthesda; GM16693
Accession CVCL_M319
Resource Identification Initiative To cite this cell line use: XP132BE (RRID:CVCL_M319)
Comments Population: Honduran.
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.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (Coriell=GM16693).
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_M318 ! XP132BE LCL
Sex of cell Male
Age at sampling 8Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM16693
Cell line databases/resources CLO; CLO_0018458
Encyclopedic resources Wikidata; Q54848709
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number17