Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene

Chunlai Gao; Yi Liu; Ning Liu; Zilong Li; Xiaomeng Yang; Yanan Yang; Yue Xi; Jianjun Tian; Zhongtao Gai

Stem Cell Research (Dec 2023)

Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene

Chunlai Gao,
Yi Liu,
Ning Liu,
Zilong Li,
Xiaomeng Yang,
Yanan Yang,
Yue Xi,
Jianjun Tian,
Zhongtao Gai

Affiliations

Chunlai Gao: Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China
Yi Liu: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China
Ning Liu: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China
Zilong Li: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China
Xiaomeng Yang: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China
Yanan Yang: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China
Yue Xi: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Shandong University of Traditional Chinese Medicine, Class of 2021, Doctoral Candidates, Jinan, Shandong 250355, China; Tumor Minimally Invasive Comprehensive Treatment Department, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong 250021, China
Jianjun Tian: Clinical Laboratory, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Corresponding authors.
Zhongtao Gai: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Corresponding authors.

Journal volume & issue: Vol. 73
p. 103242

Abstract

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AUTS2 syndrome is a neurodevelopmental disorder caused by pathogenic variants and deletions of the AUTS2 gene, resulting in intellectual disability, microcephaly, and other phenotypes. Here, we generated a human induced pluripotent stem cell (iPSC) line from a 21-month-old boy with AUTS2 syndrome caused by a heterozygous mutation (c.1486C > T, p.Q496X) in the AUTS2 gene. The iPSCs had normal morphology and karyotype, expressed pluripotency markers, showed differentiation potential in vitro, and carried the AUTS2 gene mutation.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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