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Cellosaurus XP377BE (CVCL_ZS41)

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Cell line name XP377BE
Synonyms Xeroderma Pigmentosum 377 BEthesda
Accession CVCL_ZS41
Resource Identification Initiative To cite this cell line use: XP377BE (RRID:CVCL_ZS41)
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; Unexplicit; IVS6-13_-21del9; Zygosity=Homozygous (CelloPub=CLPUB00565).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 63Y
Category Finite cell line
Publications

CLPUB00565
Sikandar G. Khan, Kyu-Seon Oh, Hiroki Inui, Steffen Emmert, Deborah Tamura, John Joseph DiGiovanna, Tala Shahlavi, Carl C. Baker, Thomas D. Schneider, Kenneth H. Kraemer;
Impaired lariat-loop formation causing abnormal XPC pre-mRNA splicing resulted in xeroderma pigmentosum.
J. Invest. Dermatol. 129 Suppl. 1:S28-S28(2009)

Cross-references
Encyclopedic resources Wikidata; Q98135729
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7