Generation of Induced Pluripotent Stem Cell Line iTAF15Xsk4 from Fibroblasts of a Patient with Microdeletion at Xq24-Reference-Cited by-同舟云学术

Generation of Induced Pluripotent Stem Cell Line iTAF15Xsk4 from Fibroblasts of a Patient with Microdeletion at Xq24

Published:2023-11-01 Issue:6 Volume:54 Page:397-404
ISSN:0475-1450
Container-title:Онтогенез
language:
Short-container-title:Ontogenez

Author:

Pristyazhnyuk I. E.¹,Meshcheryakov N. I.¹²,Nikitina T. V.³,Kashevarova A. A.³,Fedotov D. A.³,Tolmacheva E. N.³,Minaycheva L. I.³,Nazarenko L. P.³,Lebedev I. N.³,Menzorov A. G.¹²

Affiliation:

1. Institute of Cytology and Genetics SB RAS

2. Novosibirsk State University

3. Research Institute of Medical Genetics, Tomsk National Research Medical Center RAS

Abstract

Differentiation of induced pluripotent stem (iPS) cells from patients and healthy donors allows in vitro study of genetic disorders. We have previously reported a clinical case of recurrent pregnancy loss in a patient with skewed X-chromosome inactivation in peripheral blood lymphocytes, endometrium, and buccal epithelium. We have found a 239 kb microdeletion at Xq24 that affected eight genes including UBE2A. In this work, we produced iPS cell line iTAF15Xsk4 from the patient’s skin fibroblasts using non-integrating episomal vectors. iPS cell line had a normal karyotype, expressed pluripotency markers, and upon differentiation in embryoid bodies expressed markers of all three germ layers. This cell line could be used for the UBE2A deficiency syndrome study.

Publisher

The Russian Academy of Sciences

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