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Cellosaurus XP86BE (CVCL_M313)

[Text version]
Cell line name XP86BE
Synonyms Xeroderma Pigmentosum 86 BEthesda; GM16370
Accession CVCL_M313
Resource Identification Initiative To cite this cell line use: XP86BE (RRID:CVCL_M313)
Comments Population: Caucasian.
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; IVS2+1G>A; Zygosity=Homozygous; Note=Splice donor mutation (CelloPub=CLPUB00563).
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_M324 ! XP86BE LCL
Sex of cell Female
Age at sampling 47Y
Category Finite cell line
Publications

CLPUB00563
Takahiro Ueda, Sikandar G. Khan, Steffen Emmert, Tala Shahlavi, David B. Busch, Thomas D. Schneider, Kenneth H. Kraemer;
A G to A change at the splice donor site of intron 2 in the xeroderma pigmentosum group C (XPC) gene alters the efficiency of premRNA splicing.
J. Invest. Dermatol. 117:515-515(2001)

Cross-references
Cell line collections (Providers) Coriell; GM16370
Cell line databases/resources CLO; CLO_0019419
Encyclopedic resources Wikidata; Q54848482
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number14