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Cellosaurus UAMi005-A (CVCL_WT15)

[Text version]

Cell line name UAMi005-A
Synonyms GLDC27-FiPS4F-1; GLDC27-1
Accession CVCL_WT15
Resource Identification Initiative To cite this cell line use: UAMi005-A (RRID:CVCL_WT15)
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 sampling site: Thigh; skin.
Sequence variations Mutation; HGNC; 4313; GLDC; Simple; p.Pro581Arg (c.1742C>G); ClinVar=VCV000216936; Zygosity=Heterozygous (PubMed=31349202).
Mutation; HGNC; 4313; GLDC; Simple; p.Arg790Trp (c.2368C>T); ClinVar=VCV000056075; Zygosity=Heterozygous (PubMed=31349202).
Disease Glycine encephalopathy (NCIt: C84937)
Glycine encephalopathy (ORDO: Orphanet_407)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1M
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/204/Caracteristicas%20-%20Documento_Deposito_Lineas_GLDC27-FiPS4F-1.pdf
Publications

PubMed=31349202; DOI=10.1016/j.scr.2019.101503
Arribas-Carreira L., Bravo-Alonso I., Lopez-Marquez A., Alonso-Barroso E., Briso-Montiano A., Arroyo I., Ugarte M., Perez B., Perez-Cerda C., Rodriguez-Pombo P., Richard E.
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.
Stem Cell Res. 39:101503-101503(2019)

Cross-references
Cell line databases/resources hPSCreg; UAMi005-A
Other Wikidata; Q98133804
Entry history
Entry creation05-Jul-2019
Last entry update20-May-2021
Version number7