ID   UAMi005-A
AC   CVCL_WT15
SY   GLDC27-FiPS4F-1; GLDC27-1
DR   BioSamples; SAMEA110403758
DR   hPSCreg; UAMi005-A
DR   Wikidata; Q98133804
RX   PubMed=31349202;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_Deposito_Lineas_GLDC27-FiPS4F-1.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Biologia Molecular Severo Ochoa, Universidad Autonoma de Madrid; Madrid; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4313; GLDC; Simple; p.Pro581Arg (c.1742C>G); ClinVar=VCV000216936; Zygosity=Heterozygous (PubMed=31349202).
CC   Sequence variation: Mutation; HGNC; HGNC:4313; GLDC; Simple; p.Arg790Trp (c.2368C>T); ClinVar=VCV000056075; Zygosity=Heterozygous (PubMed=31349202).
CC   Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84937; Glycine encephalopathy
DI   ORDO; Orphanet_407; Glycine encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1M
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 10-04-25; Version: 13
//
RX   PubMed=31349202; DOI=10.1016/j.scr.2019.101503;
RA   Arribas-Carreira, Laura
RA   Bravo-Alonso, Irene
RA   Lopez-Marquez, Aristides
RA   Alonso-Barroso, Esmeralda
RA   Briso-Montiano, Alvaro
RA   Arroyo, Ignacio
RA   Ugarte, Magdalena
RA   Perez, Belen
RA   Perez-Cerda, Celia
RA   Rodriguez-Pombo, Pilar
RA   Richard Rodriguez, Eva Maria
RT   "Generation and characterization of a human iPSC line (UAMi005-A) from
RT   a patient with nonketotic hyperglycinemia due to mutations in the GLDC
RT   gene.";
RL   Stem Cell Res. 39:101503-101503(2019).
//