ID   UAMi003-A
AC   CVCL_VF03
SY   MMAB44-FiPS4F11; MMAB44-FiS4F11
DR   hPSCreg; UAMi003-A
DR   Wikidata; Q54973885
RX   PubMed=29660608;
RX   PubMed=35569737;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/106/Caracteristicas%20-%202017_06_06_IPS_MMAB44-FiPS4F11.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/106/Anexo%20-%202017_06_06ANEXOS_SOLICITUD_DEPOSITO_LINEA_CELULAR_MMAB44-FiPS4F11.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; 19331; MMAB; Simple; p.Ile96Thr (c.287T>C); ClinVar=VCV000218323; Zygosity=Heterozygous (PubMed=29660608).
CC   Sequence variation: Mutation; HGNC; 19331; MMAB; Simple; p.Ser174Cysfs*23 (c.584G>A); Zygosity=Heterozygous (PubMed=29660608).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142172; Methylmalonic aciduria, cblB type
DI   ORDO; Orphanet_79311; Vitamin B12-responsive methylmalonic acidemia type cblB
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 13
//
RX   PubMed=29660608; DOI=10.1016/j.scr.2018.03.021;
RA   Richard Rodriguez E.M., Brasil S., Briso-Montiano A., Alonso-Barroso E.,
RA   Gallardo M.E., Merinero B., Ugarte M., Desviat L.R., Perez B.;
RT   "Generation and characterization of two human iPSC lines from patients
RT   with methylmalonic acidemia cblB type.";
RL   Stem Cell Res. 29:143-147(2018).
//
RX   PubMed=35569737; DOI=10.1016/j.bbadis.2022.166433;
RA   Briso-Montiano A., Vilas A., Richard Rodriguez E.M., Ruiz-Sala P.,
RA   Morato E., Desviat L.R., Ugarte M., Rodriguez-Pombo P., Perez B.;
RT   "Hepatocyte-like cells differentiated from methylmalonic aciduria cblB
RT   type induced pluripotent stem cells: a platform for the evaluation of
RT   pharmacochaperoning.";
RL   Biochim. Biophys. Acta 1868:166433.1-166433.12(2022).
//