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Cellosaurus HUJIi004-A (CVCL_E4CY)

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Cell line name HUJIi004-A
Synonyms ITM-iPS10; ITM-iPS, clone 10
Accession CVCL_E4CY
Resource Identification Initiative To cite this cell line use: HUJIi004-A (RRID:CVCL_E4CY)
Comments From: Hebrew University; Jerusalem; Israel.
Population: Jewish.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Glu642Valfs*4 (c.1923_1924delAG); Zygosity=Heterozygous (PubMed=39951836).
Disease Neurodevelopmental disorder with spastic diplegia and visual defects (NCIt: C176897)
Severe intellectual disability-progressive spastic diplegia syndrome (ORDO: Orphanet_404473)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_E4CZ ! HUJIi004-B
Sex of cell Male
Age at sampling 11-12Y
Category Induced pluripotent stem cell
Publications

PubMed=39951836; DOI=10.1016/j.scr.2025.103667
Daniel J. Steinberg, Kian Maroun, Srinivasarao Repudi, Bruria Gidoni Ben-Zeev, Rami Ishaq Aqeilan;
Generation of human induced pluripotent stem cell lines HUJIi004 and HUJIi005 from two individuals carrying autosomal-dominant mutations in the CTNBB1 gene resulting in CTNNB1 neurodevelopmental disorder.
Stem Cell Res. 83:103667-103667(2025)

Cross-references
Cell line databases/resources hPSCreg; HUJIi004-A
Biological sample resources BioSamples; SAMEA115345294
Entry history
Entry creation19-Dec-2024
Last entry update27-Nov-2025
Version number2