TY - JOUR
T1 - Generation and characterization of three human induced pluripotent stem cell lines (iPSC) from two family members with dilated cardiomyopathy and left ventricular noncompaction (DCM-LVNC) and one healthy heterozygote sibling
AU - Ben-Zvi, Hadas
AU - Korover, Nataly
AU - Rabinski, Tatiana
AU - Ofir, Rivka
AU - Cohen, Smadar
N1 - Funding Information:
The authors are grateful for the support provided by the Jordan Baruch Stem Cell Fund . Prof. Cohen holds the Claire and Harold Oshry Professor Chair in Biotechnology.
Publisher Copyright:
© 2021
PY - 2021/5/1
Y1 - 2021/5/1
N2 - Autophagy serves as a master regulator of cellular homeostasis. Hence, expectedly autophagic dysfunction has been documented in many diseases such as cancer, neurodegeneration and cardiovascular disorders. A novel homozygous mutation in PLEKHM2 gene (mPLEKHM2) resulted in dilated cardiomyopathy with left ventricular noncompaction (DCM-LVNC), probably as result of impaired autophagy due to disruption of lysosomal movement assisted by PLEKHM2. Here we report a generation of three iPSC lines, four clones originated from two patients with homozygous mPLEKHM2 and two from a heterozygote sibling. All generated lines highly expressed pluripotency markers, spontaneously differentiated into three germ layers, retained the mutation after reprogramming and displayed normal karyotypes.
AB - Autophagy serves as a master regulator of cellular homeostasis. Hence, expectedly autophagic dysfunction has been documented in many diseases such as cancer, neurodegeneration and cardiovascular disorders. A novel homozygous mutation in PLEKHM2 gene (mPLEKHM2) resulted in dilated cardiomyopathy with left ventricular noncompaction (DCM-LVNC), probably as result of impaired autophagy due to disruption of lysosomal movement assisted by PLEKHM2. Here we report a generation of three iPSC lines, four clones originated from two patients with homozygous mPLEKHM2 and two from a heterozygote sibling. All generated lines highly expressed pluripotency markers, spontaneously differentiated into three germ layers, retained the mutation after reprogramming and displayed normal karyotypes.
UR - http://www.scopus.com/inward/record.url?scp=85106294235&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2021.102382
DO - 10.1016/j.scr.2021.102382
M3 - Article
C2 - 34088011
AN - SCOPUS:85106294235
SN - 1873-5061
VL - 53
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 102382
ER -
