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

Ashitha S. Niranjana Murthy; Princy Choudhary; Pranshu Sachdeva; Bhagyalakshmi Shankarappa; Pradip Paul; Reeteka Sud; Harshini Manohar; Gautam Arunachal Udupi; Meera Purushottam; Sanjeev Jain; Imtiaz Zafar; Biju Viswanath

doi:10.1016/j.scr.2026.103999

April 1, 2026Stem Cell ResearchOpen Access

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

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Key Points

The aim is to generate a human iPSC line to study the impact of a mutation in the DYNC1H1 gene related to autism.
Generated iPSC line from peripheral blood mononuclear cells of a 14-year-old male patient.
Identified a de novo heterozygous variant in the DYNC1H1 gene.
Utilized established protocols for iPSC generation and characterization.
Created the iPSC line NIMHi033-A from the patient, allowing for further studies.
Identified a likely-pathogenic mutation affecting motor protein function.
Predicted impacts on neurotrophic signaling and synaptic functions due to the mutation.

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Implication

Research reports the creation of an iPSC line to explore autism's genetic influence in a patient.

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.

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Murthy et al. (2026) studied this question.

synapsesocial.com/papers/69eb084f553a5433e34b36d0 https://doi.org/10.1016/j.scr.2026.103999

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

Key Points

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Implication

Abstract

Discussion

Cite This Study

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

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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