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Cellosaurus UAMi004-A (CVCL_WT14)

[Text version]

Cell line name UAMi004-A
Synonyms PCCB10-FiPS4F1
Accession CVCL_WT14
Resource Identification Initiative To cite this cell line use: UAMi004-A (RRID:CVCL_WT14)
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.
Population: Caucasian.
Derived from sampling site: Thigh; skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 8654; PCCB; Simple; p.Gly407Argfs*14 (c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA) (c.1218_1231del14ins12); ClinVar=VCV000038875; Zygosity=Homozygous (PubMed=31132581).
Disease Propionic acidemia (NCIt: C85030)
Propionic acidemia (ORDO: Orphanet_35)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A1XD (UAMi004-A-1 )
Sex of cell Female
Age at sampling 24Y
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/181/Caracteristicas%20-%20Documento_Deposito_Lineas_PCCB10-FiPS4F-1-v2.pdf
Publications

PubMed=31132581; DOI=10.1016/j.scr.2019.101469
Lopez-Marquez A., Alonso-Barroso E., Cerro-Tello G., Bravo-Alonso I., Arribas-Carreira L., Briso-Montiano A., Navarrete R., Perez-Cerda C., Ugarte M., Perez B., Desviat L.R., Richard E.
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.
Stem Cell Res. 38:101469-101469(2019)

PubMed=31365893; DOI=10.1016/j.scr.2019.101513
Lopez-Marquez A., Alonso-Barroso E., Cerro-Tello G., Bravo-Alonso I., Arribas-Carreira L., Briso-Montiano A., Navarrete R., Perez-Cerda C., Ugarte M., Perez B., Desviat L.R., Richard E.
Corrigendum to 'Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene' [Stem Cell Research, Volume 38, July 2019, 101469].
Stem Cell Res. 39:101513-101513(2019)

PubMed=33128956; DOI=10.1016/j.scr.2020.102055
Fulgencio-Covian A., Alvarez M., Pepers B.A., Lopez-Marquez A., Ugarte M., Perez B., van Roon-Mom W.M.C., Desviat L.R., Richard E.
Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology.
Stem Cell Res. 49:102055-102055(2020)

Cross-references
Cell line databases/resources hPSCreg; UAMi004-A
Encyclopedic resources Wikidata; Q98133803
Entry history
Entry creation05-Jul-2019
Last entry update17-Mar-2022
Version number6