Establishment of a non-integrated iPS cell line (SDQLCHi072-A) from a patient suffered from AUTS2 syndrome

Zilong Li; Zhengbin Li; Yuqiang Lv; Min Gao; Ning Liu; Zhongtao Gai; Qiji Liu

doi:10.1016/j.scr.2024.103554

Establishment of a non-integrated iPS cell line (SDQLCHi072-A) from a patient suffered from AUTS2 syndrome

Zilong Li
, Zhengbin Li
, Yuqiang Lv
, Min Gao
, Ning Liu
, Zhongtao Gai
, Qiji Liu

Shandong University
Ltd.
Jinan Children's Hospital

科研成果: 期刊稿件 › 文章 › 同行评审

摘要

In this study, PBMCs used in reprogramming were from a boy suffered from AUTS2 syndrome confirmed by clinical and genetic diagnosis. iPSCs were established by non-integrated method, which carried AUTS2 heterozygous mutation. The established iPSCs presented similar appearance and expressed pluripotent markers in mRNA and protein level. Additionally, the iPSCs possessed favorable differentiative capacity in vivo and normal karyotype. This is an effective potential model for the study about AUTS2 syndrome and the screen about drug therapy.

源语言	英语
文章编号	103554
期刊	Stem Cell Research
卷	81
DOI	https://doi.org/10.1016/j.scr.2024.103554
出版状态	已出版 - 12月 2024
已对外发布	是

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10.1016/j.scr.2024.103554

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title = "Establishment of a non-integrated iPS cell line (SDQLCHi072-A) from a patient suffered from AUTS2 syndrome",

abstract = "In this study, PBMCs used in reprogramming were from a boy suffered from AUTS2 syndrome confirmed by clinical and genetic diagnosis. iPSCs were established by non-integrated method, which carried AUTS2 heterozygous mutation. The established iPSCs presented similar appearance and expressed pluripotent markers in mRNA and protein level. Additionally, the iPSCs possessed favorable differentiative capacity in vivo and normal karyotype. This is an effective potential model for the study about AUTS2 syndrome and the screen about drug therapy.",

keywords = "AUTS2, AUTS2 syndrome, Reprogramming, iPSC",

author = "Zilong Li and Zhengbin Li and Yuqiang Lv and Min Gao and Ning Liu and Zhongtao Gai and Qiji Liu",

note = "Publisher Copyright: {\textcopyright} 2024 The Authors",

year = "2024",

month = dec,

doi = "10.1016/j.scr.2024.103554",

language = "英语",

volume = "81",

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AU - Li, Zilong

AU - Li, Zhengbin

AU - Lv, Yuqiang

AU - Gao, Min

AU - Liu, Ning

AU - Gai, Zhongtao

AU - Liu, Qiji

PY - 2024/12

Y1 - 2024/12

N2 - In this study, PBMCs used in reprogramming were from a boy suffered from AUTS2 syndrome confirmed by clinical and genetic diagnosis. iPSCs were established by non-integrated method, which carried AUTS2 heterozygous mutation. The established iPSCs presented similar appearance and expressed pluripotent markers in mRNA and protein level. Additionally, the iPSCs possessed favorable differentiative capacity in vivo and normal karyotype. This is an effective potential model for the study about AUTS2 syndrome and the screen about drug therapy.

AB - In this study, PBMCs used in reprogramming were from a boy suffered from AUTS2 syndrome confirmed by clinical and genetic diagnosis. iPSCs were established by non-integrated method, which carried AUTS2 heterozygous mutation. The established iPSCs presented similar appearance and expressed pluripotent markers in mRNA and protein level. Additionally, the iPSCs possessed favorable differentiative capacity in vivo and normal karyotype. This is an effective potential model for the study about AUTS2 syndrome and the screen about drug therapy.

KW - AUTS2

KW - AUTS2 syndrome

KW - Reprogramming

KW - iPSC

UR - https://www.scopus.com/pages/publications/85203628374

U2 - 10.1016/j.scr.2024.103554

DO - 10.1016/j.scr.2024.103554

M3 - 文章

C2 - 39276529

AN - SCOPUS:85203628374

SN - 1873-5061

VL - 81

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 103554

ER -

Establishment of a non-integrated iPS cell line (SDQLCHi072-A) from a patient suffered from AUTS2 syndrome

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