Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3Δ25bp variant

Prasanth Chimata; Deepak K Kashyap; Thiagarajan Sairam; Akshayaa Ganesh; Kumarasamy Thangaraj; Meera Purushottam; Biju Viswanath; Sanjeev Jain; Perundurai S Dhandapany

doi:10.1016/j.scr.2022.102978

Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3^Δ^25bp variant

Stem Cell Res. 2022 Dec:65:102978. doi: 10.1016/j.scr.2022.102978. Epub 2022 Nov 15.

Authors

Prasanth Chimata¹, Deepak K Kashyap², Thiagarajan Sairam³, Akshayaa Ganesh⁴, Kumarasamy Thangaraj⁵, Meera Purushottam⁴, Biju Viswanath⁴, Sanjeev Jain⁴, Perundurai S Dhandapany⁶

Affiliations

¹ Cardiovascular Biology and Disease Theme, Institute for Stem Cell Science and Regenerative Medicine, Bangalore (inStem), Bangalore, India; Manipal Academy of Higher Education, Manipal, India.
² Cardiovascular Biology and Disease Theme, Institute for Stem Cell Science and Regenerative Medicine, Bangalore (inStem), Bangalore, India; CSIR-Center for Cellular and Molecular Biology (CCMB), Hyderabad, India.
³ Cardiovascular Biology and Disease Theme, Institute for Stem Cell Science and Regenerative Medicine, Bangalore (inStem), Bangalore, India.
⁴ Molecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, India.
⁵ CSIR-Center for Cellular and Molecular Biology (CCMB), Hyderabad, India; Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India.
⁶ Cardiovascular Biology and Disease Theme, Institute for Stem Cell Science and Regenerative Medicine, Bangalore (inStem), Bangalore, India. Electronic address: dhan@instem.res.in.

PMID: 36403549
DOI: 10.1016/j.scr.2022.102978

Abstract

Myosin binding protein C3 (MYBPC3) is a thick filament contractile protein that interacts with myosin, titin and actin and regulates cardiac muscle contraction. Genetic variations in the MYBPC3 gene are known causal factors for cardiomyopathy and heart failure. Previously, we identified a recurrent MYBPC3 deletion (25 base pairs) among South Asians associated with cardiomyopathy and heart failure. Here, we generated an induced pluripotent stem cell (iPSC) line using peripheral blood mononuclear cells (PBMC) from an Indian harboring MYBPC3 deletion. This iPSC line displayed embryonic stem cell morphology, expressed pluripotency markers, differentiated into three germ layers and exhibited normal karyotype.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cardiomyopathies* / genetics
Carrier Proteins* / genetics
Cell Line
Gene Deletion
Heart Failure* / genetics
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
South Asian People* / genetics

Substances

myosin-binding protein C
Carrier Proteins

Supplementary concepts

Indian people