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Article

Generation of a hiPSC from a patient with an ITSN1-associated neurodevelopmental disorder spectrum carrying biallelic c.2893_2894insA (p.Tyr965Ter) genetic variant.

Stem cell research - 1 Sept 2026

Vaish Saurabh, Ishangini Sai, Srinivasan Varunvenkat M, Gowda Vykuntaraju K, Srivastava Anshika

Abstract excerpt

De novo truncating variants in ITSN1 are implicated in neurodevelopment disorders spectrum, however, biallelic variants in ITSN1 have not been previously identified. Here we present a hiPSC line generated from a patient dermal fibroblast carrying biallelic variant, c.2893_2894insA (p.Tyr965Ter). The hiPSC line expresses core stemness markers, mycoplasma free with normal karyotype and demonstrate trilineage...

Read the complete abstract on PubMed

Topics

Humans
Induced Pluripotent Stem Cells
Neurodevelopmental Disorders
Cell Differentiation
Fibroblasts
Cell Line

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 42492410
DOI: 10.1016/j.scr.2026.104062

Genes

ITSN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

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