Cellosaurus cell line XPH102TMA (CVCL

Cellosaurus XPH102TMA (CVCL_1F51)

Cross-references
Cell line name	XPH102TMA
Synonyms	Xeroderma Pigmentosum Heterozygote 102 Turkey MAlatya; GM15717
Accession	CVCL_1F51
Resource Identification Initiative	To cite this cell line use: XPH102TMA (RRID:CVCL_1F51)
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; c.413-9T>A (IVS3-9T>A); ClinVar=VCV000000260; Zygosity=Heterozygous (PubMed=14662655).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_1F52 ! XPH102TMA LCL
Sex of cell	Female
Age at sampling	Adult
Category	Finite cell line
Publications	PubMed=14662655; DOI=10.1093/hmg/ddh026 Khan S.G., Metin A., Gozukara E.M., Inui H., Shahlavi T., Muniz-Medina V., Baker C.C., Ueda T., Aiken J.R., Schneider T.D., Kraemer K.H. Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum. Mol. Genet. 13:343-352(2004) 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; GM15717
Cell line databases/resources	CLO; CLO_0027677
Encyclopedic resources	Wikidata; Q54848153
Entry history
Entry creation	08-Jul-2015
Last entry update	29-Jun-2023
Version number	12