Cellosaurus cell line XPH96TMA (CVCL

Cellosaurus XPH96TMA (CVCL_1F43)

Cross-references
Cell line name	XPH96TMA
Synonyms	Xeroderma Pigmentosum Heterozygote 96 Turkey MAlatya; GM15707
Accession	CVCL_1F43
Resource Identification Initiative	To cite this cell line use: XPH96TMA (RRID:CVCL_1F43)
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:12816; XPC; Simple; p.Arg579Ter (c.1735C>T); ClinVar=VCV000000259; Zygosity=Heterozygous (PubMed=11511294).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_1F44 ! XPH96TMA LCL
Sex of cell	Male
Age at sampling	Adult
Category	Finite cell line
Publications	PubMed=11511294; DOI=10.1046/j.1523-1747.2001.01424.x Engin Mevlut Gozukara, Sikandar G. Khan, Ahmet Metin, Steffen Emmert, David B. Busch, Tala Shahlavi, Donna M. Coleman, Mark Miller, Nonglux Chinsomboon, Miria Stefanini, Kenneth H. Kraemer; 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) PubMed=16081512; DOI=10.1093/carcin/bgi204 Sikandar G. Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B. Busch, Hiroki Inui, Steffen Emmert, Kyoko Imoto, Vanessa Muniz-Medina, Carl C. Baker, John Joseph DiGiovanna ...Show all 18 authors... , Deborah Schmidt, Arash Khadavi, Ahmet Metin, Engin Mevlut Gozukara, Hanoch Slor, Alain Sarasin, Kenneth H. Kraemer; Show fewer authors Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis 27:84-94(2006)
Cell line collections (Providers)	Coriell; GM15707
Cell line databases/resources	CLO; CLO_0027663
Encyclopedic resources	Wikidata; Q54848145
Entry history
Entry creation	08-Jul-2015
Last entry update	19-Dec-2024
Version number	13