TY - JOUR
T1 - Generation of human induced 4x44 stem cell (iPSC) lines derived from five patients carrying the pathogenic phospholamban-R14del (PLN-R14del) variant and three non-carrier family members
AU - Mittal, Nishka
AU - Dave, Jaydev
AU - Harakalova, Magdalena
AU - van Tintelen, J Peter
AU - Asselbergs, Folkert W
AU - Doevendans, Pieter A
AU - Costa, Kevin D
AU - Turnbull, Irene C
AU - Stillitano, Francesca
N1 - Funding Information: This work was supported by the Stem Cell Engineering CoRE Facility of Icahn School of Medicine at Mount Sinai. Publisher Copyright: © 2022 The Authors
PY - 2022/4
Y1 - 2022/4
N2 - The R14del pathogenic variant in the phospholamban (PLN) gene (PLN-R14del), has been identified in families with hereditary cardiomyopathy, including dilated and arrhythmogenic cardiomyopathies. Here we have generated human iPSC lines from five PLN-R14del carriers and three non-carrier family members. Peripheral blood mononuclear cells (PBMC) were obtained from the eight individuals and reprogrammed using Sendai viral vector system carrying the Yamanaka factors. All eight lines show typical iPSC morphology, normal karyotype, high expression of pluripotency markers, and possess the ability to differentiate into all three germ layers. These lines represent valuable resources for studying the pathophysiological mechanisms of PLN-R14del associated cardiomyopathy.
AB - The R14del pathogenic variant in the phospholamban (PLN) gene (PLN-R14del), has been identified in families with hereditary cardiomyopathy, including dilated and arrhythmogenic cardiomyopathies. Here we have generated human iPSC lines from five PLN-R14del carriers and three non-carrier family members. Peripheral blood mononuclear cells (PBMC) were obtained from the eight individuals and reprogrammed using Sendai viral vector system carrying the Yamanaka factors. All eight lines show typical iPSC morphology, normal karyotype, high expression of pluripotency markers, and possess the ability to differentiate into all three germ layers. These lines represent valuable resources for studying the pathophysiological mechanisms of PLN-R14del associated cardiomyopathy.
KW - Calcium-Binding Proteins/genetics
KW - Cardiomyopathies/metabolism
KW - Humans
KW - Induced Pluripotent Stem Cells/metabolism
KW - Leukocytes, Mononuclear/metabolism
KW - Mutation
UR - http://www.scopus.com/inward/record.url?scp=85125546209&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.scr.2022.102737
DO - https://doi.org/10.1016/j.scr.2022.102737
M3 - Article
C2 - 35247838
SN - 1873-5061
VL - 60
SP - 102737
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 102737
ER -