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; 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 Sikandar G. Khan, Ahmet Metin, Engin Mevlut Gozukara, Hiroki Inui, Tala Shahlavi, Vanessa Muniz-Medina, Carl C. Baker, Takahiro Ueda, Juliet R. Aiken, Thomas D. Schneider, Kenneth H. Kraemer; 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 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; GM15717
Cell line databases/resources	CLO; CLO_0027677
Encyclopedic resources	Wikidata; Q54848153
Entry history
Entry creation	08-Jul-2015
Last entry update	19-Dec-2024
Version number	13