Cellosaurus cell line XPH97TMA (CVCL

Cellosaurus XPH97TMA (CVCL_1F53)

Cross-references
Cell line name	XPH97TMA
Synonyms	Xeroderma Pigmentosum Heterozygote 97 Turkey MAlatya; GM15721
Accession	CVCL_1F53
Resource Identification Initiative	To cite this cell line use: XPH97TMA (RRID:CVCL_1F53)
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_1F54 ! XPH97TMA LCL
Sex of cell	Female
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; GM15721
Cell line databases/resources	CLO; CLO_0027673
Encyclopedic resources	Wikidata; Q54848155
Entry history
Entry creation	08-Jul-2015
Last entry update	19-Dec-2024
Version number	13