ID   UAMi004-A
AC   CVCL_WT14
SY   PCCB10-FiPS4F1
DR   hPSCreg; UAMi004-A
DR   Wikidata; Q98133803
RX   PubMed=31132581;
RX   PubMed=31365893;
RX   PubMed=33128956;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/181/Caracteristicas%20-%20Documento_Deposito_Lineas_PCCB10-FiPS4F-1-v2.pdf
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   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8654; PCCB; Simple; p.Gly407Argfs*14 (c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA) (c.1218_1231del14ins12); ClinVar=VCV000038875; Zygosity=Homozygous (PubMed=31132581).
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)
SX   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31132581; DOI=10.1016/j.scr.2019.101469;
RA   Lopez-Marquez A., Alonso-Barroso E., Cerro-Tello G., Bravo-Alonso I.,
RA   Arribas-Carreira L., Briso-Montiano A., Navarrete R., Perez-Cerda C.,
RA   Ugarte M., Perez B., Desviat L.R., Richard Rodriguez E.M.;
RT   "Generation and characterization of a human iPSC line (UAMi004-A) from
RT   a patient with propionic acidemia due to defects in the PCCB gene.";
RL   Stem Cell Res. 38:101469-101469(2019).
//
RX   PubMed=31365893; DOI=10.1016/j.scr.2019.101513;
RA   Lopez-Marquez A., Alonso-Barroso E., Cerro-Tello G., Bravo-Alonso I.,
RA   Arribas-Carreira L., Briso-Montiano A., Navarrete R., Perez-Cerda C.,
RA   Ugarte M., Perez B., Desviat L.R., Richard Rodriguez E.M.;
RT   "Corrigendum to 'Generation and characterization of a human iPSC line
RT   (UAMi004-A) from a patient with propionic acidemia due to defects in
RT   the PCCB gene' [Stem Cell Research, Volume 38, July 2019, 101469].";
RL   Stem Cell Res. 39:101513-101513(2019).
//
RX   PubMed=33128956; DOI=10.1016/j.scr.2020.102055;
RA   Fulgencio-Covian A., Alvarez M., Pepers B.A., Lopez-Marquez A.,
RA   Ugarte M., Perez B., van Roon-Mom W.M.C., Desviat L.R.,
RA   Richard Rodriguez E.M.;
RT   "Generation of a gene-corrected human isogenic line (UAMi006-A) from
RT   propionic acidemia patient iPSC with an homozygous mutation in the
RT   PCCB gene using CRISPR/Cas9 technology.";
RL   Stem Cell Res. 49:102055-102055(2020).
//