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Cellosaurus UAMi001-A (CVCL_QX83)

[Text version]
Cell line name UAMi001-A
Synonyms PCCA23-FiPS4F8
Accession CVCL_QX83
Resource Identification Initiative To cite this cell line use: UAMi001-A (RRID:CVCL_QX83)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro de Biologia Molecular Severo Ochoa, Universidad Autonoma de Madrid; Madrid; Spain.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8653; PCCA; Simple; p.Cys616_Val633del (c.1899+4_1899+7delAGTA) (1824IVS+3del4) (IVS21+3del4); Zygosity=Heterozygous (PubMed=28925364).
  • Mutation; HGNC; 8653; PCCA; Simple; p.Gly477Glufs*9 (c.1430-?_1643+?del); Zygosity=Heterozygous (PubMed=28925364).
Disease Propionic acidemia (NCIt: C85030)
Propionic acidemia (ORDO: Orphanet_35)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_UM92 ! UAMi001-B
Sex of cell Female
Age at sampling 11Y
Category Induced pluripotent stem cell
Publications

PubMed=28925364; DOI=10.1016/j.scr.2017.07.021
Alonso-Barroso E., Brasil S., Briso-Montiano A., Navarrete R., Perez-Cerda C., Ugarte M., Perez B., Desviat L.R., Richard Rodriguez E.M.
Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene.
Stem Cell Res. 23:173-177(2017)

PubMed=33503868; DOI=10.3390/ijms22031161
Alonso-Barroso E., Perez B., Desviat L.R., Richard Rodriguez E.M.
Cardiomyocytes derived from induced pluripotent stem cells as a disease model for propionic acidemia.
Int. J. Mol. Sci. 22:1161.1-1161.14(2021)

Cross-references
Cell line databases/resources hPSCreg; UAMi001-A
Biological sample resources BioSamples; SAMEA110403759
Encyclopedic resources Wikidata; Q54973881
Entry history
Entry creation15-Nov-2017
Last entry update30-Jan-2024
Version number14