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

Stem cell research - 1 Aug 2026

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

Abstract excerpt

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...

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Identifiers

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

Genes

DYNC1H1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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