ID   UAMi001-A
AC   CVCL_QX83
SY   PCCA23-FiPS4F8
DR   BioSamples; SAMEA110403759
DR   hPSCreg; UAMi001-A
DR   Wikidata; Q54973881
RX   PubMed=28925364;
RX   PubMed=33503868;
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Biologia Molecular Severo Ochoa, Universidad Autonoma de Madrid; Madrid; Spain.
CC   Sequence variation: Mutation; HGNC; 8653; PCCA; Simple; p.Cys616_Val633del (c.1899+4_1899+7delAGTA) (1824IVS+3del4) (IVS21+3del4); Zygosity=Heterozygous (PubMed=28925364).
CC   Sequence variation: Mutation; HGNC; 8653; PCCA; Simple; p.Gly477Glufs*9 (c.1430-?_1643+?del); Zygosity=Heterozygous (PubMed=28925364).
CC   Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85030; Propionic acidemia
DI   ORDO; Orphanet_35; Propionic acidemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UM92 ! UAMi001-B
SX   Female
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 30-01-24; Version: 14
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RX   PubMed=28925364; DOI=10.1016/j.scr.2017.07.021;
RA   Alonso-Barroso E., Brasil S., Briso-Montiano A., Navarrete R.,
RA   Perez-Cerda C., Ugarte M., Perez B., Desviat L.R.,
RA   Richard Rodriguez E.M.;
RT   "Generation and characterization of a human iPSC line from a patient
RT   with propionic acidemia due to defects in the PCCA gene.";
RL   Stem Cell Res. 23:173-177(2017).
//
RX   PubMed=33503868; DOI=10.3390/ijms22031161;
RA   Alonso-Barroso E., Perez B., Desviat L.R., Richard Rodriguez E.M.;
RT   "Cardiomyocytes derived from induced pluripotent stem cells as a
RT   disease model for propionic acidemia.";
RL   Int. J. Mol. Sci. 22:1161.1-1161.14(2021).
//