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Cellosaurus UNIZARi001-A (CVCL_B5RL)

[Text version]
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; 11831; TK2; Simple; p.Arg130Trp (c.388C>T); ClinVar=VCV000038988; Zygosity=Heterozygous (PubMed=34973561).
  • Mutation; 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
Hernandez-Ainsa C., Nascimento A., Jou C., Artuch R., Montoya J., Ruiz-Pesini E., Emperador S.
Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene.
Stem Cell Res. 59:102632-102632(2022)

Cross-references
Cell line databases/resources hPSCreg; UNIZARi001-A
Biological sample resources BioSamples; SAMEA10984146
Encyclopedic resources Wikidata; Q112041895
Entry history
Entry creation17-Mar-2022
Last entry update30-Jan-2024
Version number5