Research output: Contribution to journal › Editorial › peer-review
Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro. / Perepelina, Kseniya; Klauzen, Polina; Khudiakov, Aleksandr; Zlotina, Anna; Fomicheva, Yulia; Rudenko, Dmitry; Gordeev, Mikhail; Sergushichev, Alexey; Malashicheva, Anna; Kostareva, Anna.
In: Stem Cell Research, Vol. 43, 101714, 03.2020.Research output: Contribution to journal › Editorial › peer-review
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TY - JOUR
T1 - Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.
AU - Perepelina, Kseniya
AU - Klauzen, Polina
AU - Khudiakov, Aleksandr
AU - Zlotina, Anna
AU - Fomicheva, Yulia
AU - Rudenko, Dmitry
AU - Gordeev, Mikhail
AU - Sergushichev, Alexey
AU - Malashicheva, Anna
AU - Kostareva, Anna
PY - 2020/3
Y1 - 2020/3
N2 - Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p. p.Arg527Pro mutation associated with Emery–Dreifuss muscular dystrophy and dilated cardiomyopathy. Patient-specific peripheral blood mononuclear cells were reprogrammed to iPSCs using Sendai virus reprogramming system. Characterization of iPSCs had revealed pluripotency marker expression, normal karyotype, ability to differentiate into three embryonic germ layers. The reported iPSC lines could be a useful tool for in vitro modeling of laminopathies associated with LMNA genetic variants.
AB - Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p. p.Arg527Pro mutation associated with Emery–Dreifuss muscular dystrophy and dilated cardiomyopathy. Patient-specific peripheral blood mononuclear cells were reprogrammed to iPSCs using Sendai virus reprogramming system. Characterization of iPSCs had revealed pluripotency marker expression, normal karyotype, ability to differentiate into three embryonic germ layers. The reported iPSC lines could be a useful tool for in vitro modeling of laminopathies associated with LMNA genetic variants.
KW - Dilated cardiomyopathy
KW - Emery-Dreifuss muscular dystrophy
KW - Induced pluripotent stem cells
KW - Laminopathies
UR - http://www.scopus.com/inward/record.url?scp=85079200633&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/ddb548b0-a925-3093-b6dc-adc11445162e/
U2 - 10.1016/j.scr.2020.101714
DO - 10.1016/j.scr.2020.101714
M3 - Editorial
C2 - 32059175
AN - SCOPUS:85079200633
VL - 43
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 101714
ER -
ID: 53237662