Cellosaurus cell line XP101TMA (CVCL

Cellosaurus XP101TMA (CVCL_1F49)

Cross-references
Cell line name	XP101TMA
Synonyms	Xeroderma Pigmentosum Turkey MAlatya 101; GM15715
Accession	CVCL_1F49
Resource Identification Initiative	To cite this cell line use: XP101TMA (RRID:CVCL_1F49)
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=Homozygous (PubMed=14662655).
Disease	Xeroderma pigmentosum, complementation group C (NCIt: C114770) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_1F50 ! XP101TMA LCL
Sex of cell	Female
Age at sampling	10Y
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; GM15715
Cell line databases/resources	CLO; CLO_0027675
Encyclopedic resources	Wikidata; Q54848151
Entry history
Entry creation	08-Jul-2015
Last entry update	29-Jun-2023
Version number	13