ID   KAUSTi011-A
AC   CVCL_A1WG
SY   iPSC-GLP1R-KO-C1
DR   BioSamples; SAMEA7679540
DR   hPSCreg; KAUSTi011-A
DR   Wikidata; Q105509753
RX   PubMed=33421754;
CC   From: King Abdullah University of Science and Technology; Thuwal; Saudi Arabia.
CC   Population: Arab; Saudi Arabian.
CC   Sequence variation: Mutation; HGNC; HGNC:4324; GLP1R; Simple; c.402+3delG (p.Val95Glufs*72) (Ex4del); Zygosity=Homozygous (PubMed=33421754).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C122814; Developmental and epileptic encephalopathy
DI   ORDO; Orphanet_1934; Early infantile epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A1WH ! KAUSTi011-B
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=33421754; DOI=10.1016/j.scr.2020.102148;
RA   Alowaysi, Maryam
RA   Astro, Veronica
RA   Fiacco, Elisabetta
RA   Alzahrani, Fatema
RA   Alkuraya, Fowzan S.
RA   Adamo, Antonio
RT   "Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi
RT   patient with epileptic encephalopathy carrying homozygous mutation in
RT   the GLP1R gene.";
RL   Stem Cell Res. 50:102148-102148(2021).
//