Cellosaurus cell line XP73TMA (CVCL_1F40)

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Cell line name	XP73TMA
Synonyms	Xeroderma Pigmentosum Turkey MAlatya 73; GM14879
Accession	CVCL_1F40
Resource Identification Initiative	To cite this cell line use: XP73TMA (RRID:CVCL_1F40)
Comments	Population: Turkish. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 12816; XPC; Simple; c.413-24A>G (IVS3-24A>G); ClinVar=VCV000000261; Zygosity=Homozygous (PubMed=14662655).
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_1F39 ! XP73TMA LCL
Sex of cell	Female
Age at sampling	11Y
Category	Finite cell line
Publications	PubMed=14662655; DOI=10.1093/hmg/ddh026 Khan S.G., Metin A., Gozukara E.M., Inui H., Shahlavi T., Muniz-Medina V., Baker C.C., Ueda T., Aiken J.R., Schneider T.D., Kraemer K.H. Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum. Mol. Genet. 13:343-352(2004)
Cell line collections (Providers)	Coriell; GM14879
Cell line databases/resources	CLO; CLO_0032072
Encyclopedic resources	Wikidata; Q54847491
Entry history
Entry creation	08-Jul-2015
Last entry update	29-Jun-2023
Version number	12