Cellosaurus cell line UNIZARi001-A (CVCL

Cross-references
Cell line name	UNIZARi001-A
Synonyms	FiPSTK2-2
Accession	CVCL_B5RL
Resource Identification Initiative	To cite this cell line use: UNIZARi001-A (RRID:CVCL_B5RL)
Comments	From: University of Zaragoza; Zaragoza; Spain. Population: Hispanic. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11831; TK2; Simple; p.Arg130Trp (c.388C>T); ClinVar=VCV000038988; Zygosity=Heterozygous (PubMed=34973561). Mutation; HGNC; HGNC:11831; TK2; Simple; p.Lys202del (c.604_606delAAG); ClinVar=VCV000038995; Zygosity=Heterozygous (PubMed=34973561).
Disease	Mitochondrial DNA depletion syndrome 2 (myopathic type) (NCIt: C185236) Mitochondrial DNA depletion syndrome, myopathic form (ORDO: Orphanet_254875)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	15Y
Category	Induced pluripotent stem cell
Publications	PubMed=34973561; DOI=10.1016/j.scr.2021.102632 Carmen Hernandez-Ainsa, Andres Nascimento, Cristina Jou, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador; Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene. Stem Cell Res. 59:102632-102632(2022)
Cell line databases/resources	hPSCreg; UNIZARi001-A
Biological sample resources	BioSamples; SAMEA10984146
Encyclopedic resources	Wikidata; Q112041895
Entry history
Entry creation	17-Mar-2022
Last entry update	19-Dec-2024
Version number	6