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

Differentiation of induced pluripotent stem cells (iPSCs) from patients and healthy donors allows in vitro study of genetic disorders. The authors have previously reported a clinical case of recurrent pregnancy loss in a patient with skewed X-chromosome inactivation in peripheral blood lymphocytes,...

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Bibliographic Details
Published in:Russian journal of developmental biology 2023-12, Vol.54 (6), p.358-364
Main Authors: Pristyazhnyuk, I. E., Meshcheryakov, N. I., Nikitina, T. V., Kashevarova, A. A., Fedotov, D. A., Tolmacheva, E. N., Minaycheva, L. I., Nazarenko, L. P., Lebedev, I. N., Menzorov, A. G.
Format: Article
Language:English
Subjects:
Animal Anatomy
Biomedical and Life Sciences
Cell differentiation
Collection of Pluripotent Stem Cell Lines
Developmental Biology
Endometrium
Epithelium
Fibroblasts
Genetic disorders
Histology
Karyotypes
Life Sciences
Lymphocytes
Morphology
Peripheral blood
Pluripotency
Stem cell transplantation
Stem cells
X-chromosome inactivation
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Summary:Differentiation of induced pluripotent stem cells (iPSCs) from patients and healthy donors allows in vitro study of genetic disorders. The authors 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. A 239 kb microdeletion at Xq24 that affected eight genes, including UBE2A , has been found. In this work, an iPSC line iTAF15Xsk4 was produced from the patient’s skin fibroblasts using nonintegrating episomal vectors. The iPSC line had a normal karyotype, expressed pluripotency markers, and expressed markers of all three germ layers upon differentiation in embryoid bodies. This cell line could be used for the UBE2A deficiency syndrome study.
ISSN:1062-3604
1608-3326
DOI:10.1134/S1062360423060073