Cellosaurus cell line XP68TMA (CVCL_1F34)

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Cell line name	XP68TMA
Synonyms	Xeroderma Pigmentosum Turkey MAlatya 68; GM14869
Accession	CVCL_1F34
Resource Identification Initiative	To cite this cell line use: XP68TMA (RRID:CVCL_1F34)
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; p.Arg579Ter (c.1735C>T); ClinVar=VCV000000259; Zygosity=Homozygous (PubMed=11511294).
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	Female
Age at sampling	3Y
Category	Finite cell line
Publications	PubMed=11511294; DOI=10.1046/j.1523-1747.2001.01424.x Gozukara E.M., Khan S.G., Metin A., Emmert S., Busch D.B., Shahlavi T., Coleman D.M., Miller M., Chinsomboon N., Stefanini M., Kraemer K.H. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. J. Invest. Dermatol. 117:197-204(2001)
Cell line collections (Providers)	Coriell; GM14869
Cell line databases/resources	CLO; CLO_0031924
Encyclopedic resources	Wikidata; Q54847484
Entry history
Entry creation	08-Jul-2015
Last entry update	29-Jun-2023
Version number	12