ID   FINCBi002-A
SY   mt8742#118
DR   hPSCreg; FINCBi002-A
DR   Wikidata; Q107115013
RX   PubMed=33434818;
CC   From: Fondazione IRCCS Istituto Neurologico C. Besta; Milan; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; Group_1972; MT-@; Unexplicit; m.9449_14550del; Zygosity=Heteroplasmic; Note=In 80% (PubMed=33434818).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C115326; Pearson syndrome
DI   ORDO; Orphanet_699; Pearson syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
RX   PubMed=33434818; DOI=10.1016/j.scr.2020.102151;
RA   Peron C., Mauceri R., Iannielli A., Cavaliere A., Legati A., Rizzo A.,
RA   Sciacca F.L., Broccoli V., Tiranti V.;
RT   "Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A,
RT   carrying heteroplasmic macrodeletion of mitochondrial DNA causing
RT   Pearson's syndrome.";
RL   Stem Cell Res. 50:102151-102151(2021).