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Cellosaurus HUJIi003-A (CVCL_C1TG)

[Text version]
Cell line name HUJIi003-A
Synonyms iWSM-S5
Accession CVCL_C1TG
Resource Identification Initiative To cite this cell line use: HUJIi003-A (RRID:CVCL_C1TG)
Comments From: Hebrew University; Jerusalem; Israel.
Population: Jewish; Yemenite.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 12799; WWOX; Simple; c.517-2A>G; Zygosity=Homozygous; Note=Splice acceptor mutation (hPSCreg=HUJIi003-A).
Disease Developmental and epileptic encephalopathy 28 (NCIt: C189273)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; HUJIi003-A
Biological sample resources BioSamples; SAMEA6914467
Encyclopedic resources Wikidata; Q114311681
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4