ID   UAMi002-A
AC   CVCL_VF02
SY   MMAB35-FiPS4F4; MMAB35-FiS4F4
DR   hPSCreg; UAMi002-A
DR   Wikidata; Q54973883
RX   PubMed=29660608;
RX   PubMed=35569737;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/2017_06_06_IPS_MMAB35-FiPS4F4.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/2017_06_06ANEXOS_A_LA_SOLICITUD_DE_DEPOSITO_DE_LA_LINEA_CELULAR_MMAB35-FiPS4F4.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; HGNC:19331; MMAB; Simple; p.Ile96Thr (c.287T>C); ClinVar=VCV000218323; Zygosity=Heterozygous (PubMed=29660608).
CC   Sequence variation: Mutation; HGNC; 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   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 10-04-25; Version: 14
//
RX   PubMed=35569737; DOI=10.1016/j.bbadis.2022.166433;
RA   Briso-Montiano, Alvaro
RA   Vilas, Alicia
RA   Richard Rodriguez, Eva Maria
RA   Ruiz-Sala, Pedro
RA   Morato, Esperanza
RA   Desviat, Lourdes Ruiz
RA   Ugarte, Magdalena
RA   Rodriguez-Pombo, Pilar
RA   Perez, Belen
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).
//
RX   PubMed=29660608; DOI=10.1016/j.scr.2018.03.021;
RA   Richard Rodriguez, Eva Maria
RA   Brasil, Sandra
RA   Briso-Montiano, Alvaro
RA   Alonso-Barroso, Esmeralda
RA   Gallardo, Maria Esther
RA   Merinero, Begona
RA   Ugarte, Magdalena
RA   Desviat, Lourdes Ruiz
RA   Perez, Belen
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).
//