Generation of induced pluripotent stem cell line RCPCMi008-A derived from patient with spinocerebellar ataxia 17

L.D. Shuvalova; A.V. Davidenko; A.V. Eremeev; E.A. Khomyakova; E.A. Zerkalenkova; O.S. Lebedeva; A.N. Bogomazova; S.A. Klyushnikov; S.N. Illarioshkin; M.A. Lagarkova

Stem Cell Research (Jul 2021)

Generation of induced pluripotent stem cell line RCPCMi008-A derived from patient with spinocerebellar ataxia 17

L.D. Shuvalova,
A.V. Davidenko,
A.V. Eremeev,
E.A. Khomyakova,
E.A. Zerkalenkova,
O.S. Lebedeva,
A.N. Bogomazova,
S.A. Klyushnikov,
S.N. Illarioshkin,
M.A. Lagarkova

Affiliations

L.D. Shuvalova: Federal State Budgetary Institution Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Malaya Pirogovskaya, 1a, 119435 Moscow, Russia
A.V. Davidenko: Federal State Budgetary Institution Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Malaya Pirogovskaya, 1a, 119435 Moscow, Russia; Lomonosov Moscow State University, GSP-1, Leninskie Gory, 119991 Moscow, Russia
A.V. Eremeev: Federal State Budgetary Institution Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Malaya Pirogovskaya, 1a, 119435 Moscow, Russia; Koltzov Institute of Developmental Biology of Russian Academy of Sciences, 26 Vavilov Street, Moscow 119334, Russia; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Malaya Pirogovskaya, 1a, 119435 Moscow, Russia; Corresponding author.
E.A. Khomyakova: Federal State Budgetary Institution Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Malaya Pirogovskaya, 1a, 119435 Moscow, Russia
E.A. Zerkalenkova: Rogachev Federal Scientific and Clinical Centre of Pediatric Hematology Oncology and Immunology, 1 Samory Mashela str, 117997 Moscow, Russia
O.S. Lebedeva: Federal State Budgetary Institution Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Malaya Pirogovskaya, 1a, 119435 Moscow, Russia; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Malaya Pirogovskaya, 1a, 119435 Moscow, Russia
A.N. Bogomazova: Federal State Budgetary Institution Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Malaya Pirogovskaya, 1a, 119435 Moscow, Russia; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Malaya Pirogovskaya, 1a, 119435 Moscow, Russia
S.A. Klyushnikov: Research Center of Neurology, 80, Volokolamskoye Shosse, 125367 Moscow, Russia
S.N. Illarioshkin: Research Center of Neurology, 80, Volokolamskoye Shosse, 125367 Moscow, Russia
M.A. Lagarkova: Federal State Budgetary Institution Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Malaya Pirogovskaya, 1a, 119435 Moscow, Russia

Journal volume & issue: Vol. 54
p. 102431

Abstract

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IPSC line RCPCMi004-8 was generated from skin fibroblasts collected from a male patient with spinocerebellar ataxia 17. The patient has expanded trinucleotide CAG repeats in the TBP (TATA-binding protein) gene on chromosome 6q27. The reprogramming of fibroblasts was performed with Sendai viruses containing Oct-4, Sox-2, Klf-4, and c-Myc. Pluripotency was confirmed by immunofluorescence, RT-PCR, and the formation of embryoid bodies. The RCPCMi008-A cell line carries the same trinucleotide CAG repeats in the TBP gene. The RCPCMi008-A cell line can be used to model Spinocerebellar ataxia in vitro.

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

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