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	https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/105/Caracteristicas%20-%202017_06_06_IPS_MMAB35-FiPS4F4.pdf 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
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)
Cell line databases/resources	hPSCreg; UAMi002-A
Encyclopedic resources	Wikidata; Q54973883
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	13