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

Stem Cell Research (Jan 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

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

Affiliations

K.R. Valetdinova: Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Centre, Ministry of Healthcare of Russian Federation, Novosibirsk, Russia; National Research University Novosibirsk State University, Novosibirsk, Russia
M.A. Maretina: D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia; Saint Petersburg State University, Saint Petersburg, Russia
M.L. Kuranova: Institute of Cytology, Saint Petersburg, Russia
E.V. Grigor'eva: Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Centre, Ministry of Healthcare of Russian Federation, Novosibirsk, Russia; National Research University Novosibirsk State University, Novosibirsk, Russia
Y.M. Minina: Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia
E.A. Kizilova: Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia
A.V. Kiselev: D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia
S.P. Medvedev: Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Centre, Ministry of Healthcare of Russian Federation, Novosibirsk, Russia; National Research University Novosibirsk State University, Novosibirsk, Russia
V.S. Baranov: D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia; Saint Petersburg State University, Saint Petersburg, Russia
S.M. Zakian: Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Centre, Ministry of Healthcare of Russian Federation, Novosibirsk, Russia; National Research University Novosibirsk State University, Novosibirsk, Russia; Corresponding author at: Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia.

Journal volume & issue: Vol. 34

Abstract

Read online

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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal