Generation of iPSC line NIMHi033-A from an Indian patient with Autism Spectrum Disorder carrying mutation in DYNC1H1 gene

Stem Cell Res. 2026 Apr 21;94:103999. doi: 10.1016/j.scr.2026.103999. Online ahead of print.

ABSTRACT

We report the generation of a human induced pluripotent stem cell (hiPSC) line from peripheral blood mononuclear cells of a 14-year-old male with Autism Spectrum Disorder carrying a de novo heterozygous likely-pathogenic variation c.4067C>T (p.Pro1356Leu) in Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene. Variation in this gene that encodes a motor protein may affect retrograde transport of neurotrophic signals, synaptic vesicles, organelles like golgi complex and mitochondria. Therefore, this iPSC line will be an invaluable tool to study the effects of this high-risk autism-related variant on disease manifestation and cellular functions.

PMID:42056834 | DOI:10.1016/j.scr.2026.103999