Cellosaurus cell line XP71TMA (CVCL

Cross-references
Cell line name	XP71TMA
Synonyms	Xeroderma Pigmentosum Turkey MAlatya 71; GM14875
Accession	CVCL_AK70
Resource Identification Initiative	To cite this cell line use: XP71TMA (RRID:CVCL_AK70)
Comments	Population: Turkish. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9181; POLH; Simple; p.Gln152Ter (c.454C>T); Zygosity=Homozygous (PubMed=18368133).
Disease	Xeroderma pigmentosum variant type (NCIt: C141367) Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	8Y
Category	Finite cell line
Publications	PubMed=18368133; DOI=10.1038/jid.2008.48; PMCID=PMC2562952 Hiroki Inui, Kyu-Seon Oh, Carine Nadem, Takahiro Ueda, Sikandar G. Khan, Ahmet Metin, Engin Mevlut Gozukara, Steffen Emmert, Hanoch Slor, David B. Busch, Carl C. Baker ...Show all 22 authors... , John Joseph DiGiovanna, Deborah Tamura, Cornelia S. Seitz, Alexei Gratchev, Wen-Hao Wu, Kee Yang Chung, Hye Jin Chung, Esther Azizi, Roger Woodgate, Thomas D. Schneider, Kenneth H. Kraemer; Show fewer authors Xeroderma pigmentosum-variant patients from America, Europe, and Asia. J. Invest. Dermatol. 128:2055-2068(2008)
Cell line collections (Providers)	Coriell; GM14875
Cell line databases/resources	CLO; CLO_0032069
Encyclopedic resources	Wikidata; Q54847487
Entry history
Entry creation	02-May-2016
Last entry update	19-Dec-2024
Version number	12