ID   UNIZARi001-A
AC   CVCL_B5RL
SY   FiPSTK2-2
DR   BioSamples; SAMEA10984146
DR   hPSCreg; UNIZARi001-A
DR   Wikidata; Q112041895
RX   PubMed=34973561;
CC   From: University of Zaragoza; Zaragoza; Spain.
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; 11831; TK2; Simple; p.Arg130Trp (c.388C>T); ClinVar=VCV000038988; Zygosity=Heterozygous (PubMed=34973561).
CC   Sequence variation: Mutation; HGNC; 11831; TK2; Simple; p.Lys202del (c.604_606delAAG); ClinVar=VCV000038995; Zygosity=Heterozygous (PubMed=34973561).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C185236; Mitochondrial DNA depletion syndrome 2 (myopathic type)
DI   ORDO; Orphanet_254875; Mitochondrial DNA depletion syndrome, myopathic form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 30-01-24; Version: 5
//
RX   PubMed=34973561; DOI=10.1016/j.scr.2021.102632;
RA   Hernandez-Ainsa C., Nascimento A., Jou C., Artuch R., Montoya J.,
RA   Ruiz-Pesini E., Emperador S.;
RT   "Generation of an induced pluripotent stem cell line from a compound
RT   heterozygous patient in TK2 gene.";
RL   Stem Cell Res. 59:102632-102632(2022).
//