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Cellosaurus KAUSTi011-B (CVCL_A1WH)

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Cell line name KAUSTi011-B
Synonyms iPSC-GLP1R-KO-H4
Accession CVCL_A1WH
Resource Identification Initiative To cite this cell line use: KAUSTi011-B (RRID:CVCL_A1WH)
Comments From: King Abdullah University of Science and Technology; Thuwal; Saudi Arabia.
Population: Arab; Saudi Arabian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4324; GLP1R; Simple; c.402+3delG (p.Val95Glufs*72) (Ex4del); Zygosity=Homozygous (PubMed=33421754).
Disease Developmental and epileptic encephalopathy (NCIt: C122814)
Early infantile epileptic encephalopathy (ORDO: Orphanet_1934)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A1WG ! KAUSTi011-A
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=33421754; DOI=10.1016/j.scr.2020.102148
Maryam Alowaysi, Veronica Astro, Elisabetta Fiacco, Fatema Alzahrani, Fowzan S. Alkuraya, Antonio Adamo;
Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene.
Stem Cell Res. 50:102148-102148(2021)

Cross-references
Cell line databases/resources hPSCreg; KAUSTi011-B
Biological sample resources BioSamples; SAMEA7679542
Encyclopedic resources Wikidata; Q105509755
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7