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; 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 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) PubMed=16081512; DOI=10.1093/carcin/bgi204 Khan S.G., Oh K.-S., Shahlavi T., Ueda T., Busch D.B., Inui H., Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J., Schmidt D., Khadavi A., Metin A., Gozukara E.M., Slor H., Sarasin A., Kraemer K.H. 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	29-Jun-2023
Version number	12