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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
Ueda T., Khan S.G., Emmert S., Shahlavi T., Busch D.B., Schneider T.D., Kraemer K.H.
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