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

doi:10.1016/j.scr.2021.102431

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

Stem Cell Res. 2021 Jul:54:102431. doi: 10.1016/j.scr.2021.102431. Epub 2021 Jun 16.

Authors

Affiliations

¹ Federal State Budgetary Institution Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Malaya Pirogovskaya, 1a, 119435 Moscow, Russia.
² 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.
³ 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. Electronic address: art-eremeev@yandex.ru.
⁴ Rogachev Federal Scientific and Clinical Centre of Pediatric Hematology Oncology and Immunology, 1 Samory Mashela str, 117997 Moscow, Russia.
⁵ 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.
⁶ Research Center of Neurology, 80, Volokolamskoye Shosse, 125367 Moscow, Russia.

PMID: 34171784
DOI: 10.1016/j.scr.2021.102431

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation
Cell Line
Humans
Induced Pluripotent Stem Cells*
Male
Spinocerebellar Ataxias* / genetics

Supplementary concepts

Spinocerebellar Ataxia 17