Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines. / Valetdinova, K. R.; Maretina, M. A.; Kuranova, M. L. и др.
в: Stem Cell Research, Том 34, 101376, 01.01.2019.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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TY - JOUR
T1 - Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines
AU - Valetdinova, K. R.
AU - Maretina, M. A.
AU - Kuranova, M. L.
AU - Grigor'eva, E. V.
AU - Minina, Y. M.
AU - Kizilova, E. A.
AU - Kiselev, A. V.
AU - Medvedev, S. P.
AU - Baranov, V. S.
AU - Zakian, S. M.
N1 - Publisher Copyright: © 2019 The Authors
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletion or mutation in SMN1 gene. SMA human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the study of the disorder, as they provide in vitro the target cells. We generated iPSCs from a SMA type I patient and SMA type II patient by using non-integrating episomal plasmid vectors. The resulting iPSCs are episomal-free, express pluripotency markers, display a normal karyotype, retain the mutation (homozygous deletion of SMN1) and are able to differentiate into the three germ layers.
AB - Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletion or mutation in SMN1 gene. SMA human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the study of the disorder, as they provide in vitro the target cells. We generated iPSCs from a SMA type I patient and SMA type II patient by using non-integrating episomal plasmid vectors. The resulting iPSCs are episomal-free, express pluripotency markers, display a normal karyotype, retain the mutation (homozygous deletion of SMN1) and are able to differentiate into the three germ layers.
KW - BLOOD
KW - Cell Line
KW - Cell Culture Techniques/methods
KW - Humans
KW - Adult
KW - Induced Pluripotent Stem Cells/pathology
KW - Child
KW - Muscular Atrophy, Spinal/pathology
UR - http://www.scopus.com/inward/record.url?scp=85060060248&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2018.101376
DO - 10.1016/j.scr.2018.101376
M3 - Article
C2 - 30660867
AN - SCOPUS:85060060248
VL - 34
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 101376
ER -
ID: 18170268