Cellosaurus logo
expasy logo

Cellosaurus UAMi002-A (CVCL_VF02)

[Text version]
Cell line name UAMi002-A
Synonyms MMAB35-FiPS4F4; MMAB35-FiS4F4
Accession CVCL_VF02
Resource Identification Initiative To cite this cell line use: UAMi002-A (RRID:CVCL_VF02)
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 site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 19331; MMAB; Simple; p.Ile96Thr (c.287T>C); ClinVar=VCV000218323; Zygosity=Heterozygous (PubMed=29660608).
  • Mutation; HGNC; 19331; MMAB; Simple; p.Ser174Cysfs*23 (c.584G>A); Zygosity=Heterozygous (PubMed=29660608).
Disease Methylmalonic aciduria, cblB type (NCIt: C142172)
Vitamin B12-responsive methylmalonic acidemia type cblB (ORDO: Orphanet_79311)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/105/Caracteristicas%20-%202017_06_06_IPS_MMAB35-FiPS4F4.pdf

PubMed=29660608; DOI=10.1016/j.scr.2018.03.021
Richard Rodriguez E.M., Brasil S., Briso-Montiano A., Alonso-Barroso E., Gallardo M.E., Merinero B., Ugarte M., Desviat L.R., Perez B.
Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type.
Stem Cell Res. 29:143-147(2018)

PubMed=35569737; DOI=10.1016/j.bbadis.2022.166433
Briso-Montiano A., Vilas A., Richard Rodriguez E.M., Ruiz-Sala P., Morato E., Desviat L.R., Ugarte M., Rodriguez-Pombo P., Perez B.
Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: a platform for the evaluation of pharmacochaperoning.
Biochim. Biophys. Acta 1868:166433.1-166433.12(2022)

Cell line databases/resources hPSCreg; UAMi002-A
Encyclopedic resources Wikidata; Q54973883
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number12