ID   UAMi002-A
AC   CVCL_VF02
SY   MMAB35-FiPS4F4
DR   hPSCreg; UAMi002-A
DR   Wikidata; Q54973883
RX   PubMed=29660608;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/105/Caracteristicas%20-%202017_06_06_IPS_MMAB35-FiPS4F4.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/105/Anexo%20-%202017_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; 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 sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C142172; Methylmalonic aciduria, cblB type
DI   ORDO; Orphanet_79311; Vitamin B12-responsive methylmalonic acidemia type cblB
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 17-03-22; Version: 10
//
RX   PubMed=29660608; DOI=10.1016/j.scr.2018.03.021;
RA   Richard E., 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).
//