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

K. R. Valetdinova; M. A. Maretina; M. L. Kuranova; E. V. Grigor'eva; Y. M. Minina; E. A. Kizilova; A. V. Kiselev; S. P. Medvedev; V. S. Baranov; S. M. Zakian

doi:10.1016/j.scr.2018.101376

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

K. R. Valetdinova, M. A. Maretina, M. L. Kuranova, E. V. Grigor'eva, Y. M. Minina, E. A. Kizilova, A. V. Kiselev, S. P. Medvedev, V. S. Baranov, S. M. Zakian

Cell Engineering Laboratory

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

Abstract

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.

Original language	English
Article number	101376
Number of pages	5
Journal	Stem Cell Research
Volume	34
DOIs	https://doi.org/10.1016/j.scr.2018.101376
Publication status	Published - 1 Jan 2019

Keywords

BLOOD
Cell Line
Cell Culture Techniques/methods
Humans
Adult
Induced Pluripotent Stem Cells/pathology
Child
Muscular Atrophy, Spinal/pathology

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10.1016/j.scr.2018.101376

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Valetdinova, K. R., Maretina, M. A., Kuranova, M. L., Grigor'eva, E. V., Minina, Y. M., Kizilova, E. A., Kiselev, A. V., Medvedev, S. P., Baranov, V. S., & Zakian, S. M. (2019). 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. Stem Cell Research, 34, [101376]. https://doi.org/10.1016/j.scr.2018.101376

Valetdinova, K. R. ; Maretina, M. A. ; Kuranova, M. L. ; Grigor'eva, E. V. ; Minina, Y. M. ; Kizilova, E. A. ; Kiselev, A. V. ; Medvedev, S. P. ; Baranov, V. S. ; Zakian, S. M. / 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. In: Stem Cell Research. 2019 ; Vol. 34.

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title = "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",

abstract = "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.",

keywords = "BLOOD, Cell Line, Cell Culture Techniques/methods, Humans, Adult, Induced Pluripotent Stem Cells/pathology, Child, Muscular Atrophy, Spinal/pathology",

author = "Valetdinova, {K. R.} and Maretina, {M. A.} and Kuranova, {M. L.} and Grigor'eva, {E. V.} and Minina, {Y. M.} and Kizilova, {E. A.} and Kiselev, {A. V.} and Medvedev, {S. P.} and Baranov, {V. S.} and Zakian, {S. M.}",

year = "2019",

month = jan,

day = "1",

doi = "10.1016/j.scr.2018.101376",

language = "English",

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Valetdinova, KR, Maretina, MA, Kuranova, ML, Grigor'eva, EV, Minina, YM, Kizilova, EA, Kiselev, AV, Medvedev, SP, Baranov, VS & Zakian, SM 2019, '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', Stem Cell Research, vol. 34, 101376. https://doi.org/10.1016/j.scr.2018.101376

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.; Grigor'eva, E. V.; Minina, Y. M.; Kizilova, E. A.; Kiselev, A. V.; Medvedev, S. P.; Baranov, V. S.; Zakian, S. M.

In: Stem Cell Research, Vol. 34, 101376, 01.01.2019.

Research output: Contribution to journal › Article › peer-review

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AU - Kuranova, M. L.

AU - Grigor'eva, E. V.

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AU - Kizilova, E. A.

AU - Kiselev, A. V.

AU - Medvedev, S. P.

AU - Baranov, V. S.

AU - Zakian, S. M.

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