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Cellosaurus UAMi003-A (CVCL_VF03)

[Text version]
Cell line name UAMi003-A
Synonyms MMAB44-FiPS4F11; MMAB44-FiS4F11
Accession CVCL_VF03
Resource Identification Initiative To cite this cell line use: UAMi003-A (RRID:CVCL_VF03)
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 Male
Age at sampling 11Y
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/106/Caracteristicas%20-%202017_06_06_IPS_MMAB44-FiPS4F11.pdf
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
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; UAMi003-A
Encyclopedic resources Wikidata; Q54973885
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number13