Cellosaurus cell line UAMi005-A (CVCL

Cellosaurus UAMi005-A (CVCL_WT15)

Cross-references
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 site: In situ; Thigh, skin; UBERON=UBERON_0004262. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4313; GLDC; Simple; p.Pro581Arg (c.1742C>G); ClinVar=VCV000216936; Zygosity=Heterozygous (PubMed=31349202). Mutation; HGNC; 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 Rodriguez E.M. 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)
Cell line databases/resources	hPSCreg; UAMi005-A
Biological sample resources	BioSamples; SAMEA110403758
Encyclopedic resources	Wikidata; Q98133804
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	12