Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val
Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant rare disease caused by heterozygous mutations in the TTR gene, which encodes depolymerized transthyretin deposited in several organs. An induced pluripotent stem cell (iPSC) line of ATTR was generated from peripheral blood mononucl...
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2020-10-01
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doaj-0c178873d3714efe9afd7bf1cb4710192020-11-25T03:37:35ZengElsevierStem Cell Research1873-50612020-10-0148101940Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53ValHe Shan0Jin Ye1Xing Hai Ping2He XinYue3Zhang ShuYang4Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaMedical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, China; Corresponding author.Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant rare disease caused by heterozygous mutations in the TTR gene, which encodes depolymerized transthyretin deposited in several organs. An induced pluripotent stem cell (iPSC) line of ATTR was generated from peripheral blood mononuclear cells of a 28 years old male patient carrying the TTR mutation p.Phe53Val. We used non-integrated episomal vectors to achieve the reprogramming of PBMCs, and further proved pluripotency by expression of typical stemness surface markers, gene expression of pluripotency genes and the pathological evidence of teratoma forming three germ layers in vivo. This iPSC line is a useful cellular model for screening potential therapeutic targets and studying the pathogenic mechanism of disease.http://www.sciencedirect.com/science/article/pii/S1873506120302415 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
He Shan Jin Ye Xing Hai Ping He XinYue Zhang ShuYang |
spellingShingle |
He Shan Jin Ye Xing Hai Ping He XinYue Zhang ShuYang Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val Stem Cell Research |
author_facet |
He Shan Jin Ye Xing Hai Ping He XinYue Zhang ShuYang |
author_sort |
He Shan |
title |
Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val |
title_short |
Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val |
title_full |
Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val |
title_fullStr |
Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val |
title_full_unstemmed |
Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val |
title_sort |
establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (ttr) mutation p.phe53val |
publisher |
Elsevier |
series |
Stem Cell Research |
issn |
1873-5061 |
publishDate |
2020-10-01 |
description |
Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant rare disease caused by heterozygous mutations in the TTR gene, which encodes depolymerized transthyretin deposited in several organs. An induced pluripotent stem cell (iPSC) line of ATTR was generated from peripheral blood mononuclear cells of a 28 years old male patient carrying the TTR mutation p.Phe53Val. We used non-integrated episomal vectors to achieve the reprogramming of PBMCs, and further proved pluripotency by expression of typical stemness surface markers, gene expression of pluripotency genes and the pathological evidence of teratoma forming three germ layers in vivo. This iPSC line is a useful cellular model for screening potential therapeutic targets and studying the pathogenic mechanism of disease. |
url |
http://www.sciencedirect.com/science/article/pii/S1873506120302415 |
work_keys_str_mv |
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