Generation of iPSC line NIMHi033-A from an Indian patient with Autism Spectrum Disorder carrying mutation in DYNC1H1 gene
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.
Authors
- Pradip Paul (ORCID: https://orcid.org/0000-0002-6269-9449)
- Sanjeev Jain (ORCID: https://orcid.org/0000-0002-9508-351X)
- Reeteka Sud (ORCID: https://orcid.org/0000-0002-7866-6983)
- Gautam Arunachal Udupi
- Princy Choudhary (ORCID: https://orcid.org/0000-0003-3103-0811)
- Harshini Manohar (ORCID: https://orcid.org/0000-0002-1343-0988)
- Bhagyalakshmi Shankarappa (ORCID: https://orcid.org/0000-0002-7610-715X)
- Meera Purushottam (ORCID: https://orcid.org/0000-0002-4000-268X)
- Ashitha S. Niranjana Murthy
- Biju Viswanath
- Imtiaz Zafar (ORCID: https://orcid.org/0000-0003-0418-1956)
- Pranshu Sachdeva
Institutions
- University of Milan (IT)
- National Centre for Cell Science (IN)
- National Institute of Mental Health and Neurosciences (IN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2026-04-21
- DOI
- https://doi.org/10.1016/j.scr.2026.103999
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00