Establishment of an induced pluripotent stem cell line (ICGi026-A) from peripheral blood mononuclear cells of a patient with fragile X syndrome
Autor: | Yu. V. Maksimova, E.M. Shitik, P.A. Orlova, Natalya A. Lemskaya, Oleg L. Serov, J.M. Minina, Asia R. Shorina, Dmitry V. Yudkin, M.M. Gridina, Alexander A. Dolskiy, Irina V. Grishchenko |
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Rok vydání: | 2020 |
Předmět: |
Male
0301 basic medicine Autism Spectrum Disorder Induced Pluripotent Stem Cells Germ layer Biology Peripheral blood mononuclear cell Pathogenesis Fragile X Mental Retardation Protein 03 medical and health sciences 0302 clinical medicine In vivo medicine Humans Child Induced pluripotent stem cell lcsh:QH301-705.5 Karyotype Cell Biology General Medicine medicine.disease Fragile X syndrome 030104 developmental biology lcsh:Biology (General) Fragile X Syndrome Leukocytes Mononuclear Cancer research Reprogramming 030217 neurology & neurosurgery Developmental Biology |
Zdroj: | Stem Cell Research, Vol 49, Iss, Pp 102070-(2020) |
ISSN: | 1873-5061 |
DOI: | 10.1016/j.scr.2020.102070 |
Popis: | 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. |
Databáze: | OpenAIRE |
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