Establishment of an induced pluripotent stem cell line (ICGi026-A) from peripheral blood mononuclear cells of a patient with fragile X syndrome

M M Gridina; P A Orlova; J M Minina; E M Shitik; N A Lemskaya; I V Grishchenko; A A Dolskiy; A R Shorina; Y V Maksimova; D V Yudkin; O L Serov

doi:10.1016/j.scr.2020.102070

Establishment of an induced pluripotent stem cell line (ICGi026-A) from peripheral blood mononuclear cells of a patient with fragile X syndrome

Stem Cell Res. 2020 Dec:49:102070. doi: 10.1016/j.scr.2020.102070. Epub 2020 Oct 29.

Authors

M M Gridina¹, P A Orlova², J M Minina², E M Shitik³, N A Lemskaya⁴, I V Grishchenko³, A A Dolskiy⁵, A R Shorina⁵, Y V Maksimova⁶, D V Yudkin³, O L Serov²

Affiliations

¹ Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia. Electronic address: gridinam@gmail.com.
² Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia.
³ State Research Center of Virology and Biotechnology "Vector", Federal Service for Surveillance on Consumer Rights Protection and Human Well-being (FBRI SRC VB "Vector", Rospotrebnadzor), Koltsovo, Novosibirsk Region, Russia.
⁴ State Research Center of Virology and Biotechnology "Vector", Federal Service for Surveillance on Consumer Rights Protection and Human Well-being (FBRI SRC VB "Vector", Rospotrebnadzor), Koltsovo, Novosibirsk Region, Russia; Institute of Molecular and Cellular Biology, SB RAS, Novosibirsk, Russia.
⁵ SBIH Novosibirsk Municipal Clinical Hospital №1, Novosibirsk, Russia.
⁶ SBIH Novosibirsk Municipal Clinical Hospital №1, Novosibirsk, Russia; Novosibirsk State Medical University, Novosibirsk, Russia.

PMID: 33189043
DOI: 10.1016/j.scr.2020.102070

Abstract

Expansion over 200 CGG repeats in FMR1 gene causes inherited intellectual disability or autism spectrum disorder named as fragile X syndrome. Despite the known cause fragile X syndrome pathogenesis has not been specified yet. The ICGi026-A iPSCs line was obtained by the reprogramming of the peripheral blood mononuclear cells from a 9-year-old boy with fragile X syndrome. The ICGi026-A iPSCs expressed pluripotency markers, had a normal male karyotype (46, XY) and had the capacity to in vivo differentiate into the cells of three germ layers.

Publication types

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

MeSH terms

Autism Spectrum Disorder*
Child
Fragile X Mental Retardation Protein / genetics
Fragile X Syndrome* / genetics
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Male

Substances

FMR1 protein, human
Fragile X Mental Retardation Protein