Cellosaurus cell line UAMi002-A (CVCL

Cellosaurus UAMi002-A (CVCL_VF02)

Cross-references
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; HGNC:19331; MMAB; Simple; p.Ile96Thr (c.287T>C); ClinVar=VCV000218323; Zygosity=Heterozygous (PubMed=29660608). Mutation; HGNC; 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	Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/2017_06_06_IPS_MMAB35-FiPS4F4.pdf Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/2017_06_06ANEXOS_A_LA_SOLICITUD_DE_DEPOSITO_DE_LA_LINEA_CELULAR_MMAB35-FiPS4F4.pdf
Publications	PubMed=29660608; DOI=10.1016/j.scr.2018.03.021 Eva Maria Richard Rodriguez, Sandra Brasil, Alvaro Briso-Montiano, Esmeralda Alonso-Barroso, Maria Esther Gallardo, Begona Merinero, Magdalena Ugarte, Lourdes Ruiz Desviat, Belen Perez; 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 Alvaro Briso-Montiano, Alicia Vilas, Eva Maria Richard Rodriguez, Pedro Ruiz-Sala, Esperanza Morato, Lourdes Ruiz Desviat, Magdalena Ugarte, Pilar Rodriguez-Pombo, Belen Perez; 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 creation	14-May-2018
Last entry update	10-Apr-2025
Version number	14