Cellosaurus cell line UAMi001-A (CVCL

Cellosaurus UAMi001-A (CVCL_QX83)

Cross-references
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; HGNC:8653; PCCA; Simple; p.Gly477Glufs*9 (c.1430-?_1643+?del); Zygosity=Heterozygous (PubMed=28925364). Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Cys616_Val633del (c.1899+4_1899+7delAGTA) (1824IVS+3del4) (IVS21+3del4); 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 Esmeralda Alonso-Barroso, Sandra Brasil, Alvaro Briso-Montiano, Rosa Navarrete, Celia Perez-Cerda, Magdalena Ugarte, Belen Perez, Lourdes Ruiz Desviat, Eva Maria Richard Rodriguez; 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; PMCID=PMC7865492 Esmeralda Alonso-Barroso, Belen Perez, Lourdes Ruiz Desviat, Eva Maria Richard Rodriguez; Cardiomyocytes derived from induced pluripotent stem cells as a disease model for propionic acidemia. Int. J. Mol. Sci. 22:1161.1-1161.14(2021)
Cell line databases/resources	hPSCreg; UAMi001-A
Biological sample resources	BioSamples; SAMEA110403759
Encyclopedic resources	Wikidata; Q54973881
Entry history
Entry creation	15-Nov-2017
Last entry update	10-Apr-2025
Version number	16