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

doi:10.1016/j.scr.2023.103242

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

Stem Cell Res. 2023 Dec:73:103242. doi: 10.1016/j.scr.2023.103242. Epub 2023 Nov 3.

Authors

Chunlai Gao¹, Yi Liu², Ning Liu², Zilong Li², Xiaomeng Yang², Yanan Yang², Yue Xi³, Jianjun Tian⁴, Zhongtao Gai⁵

Affiliations

¹ Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.
² Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.
³ 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.
⁴ Clinical Laboratory, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China. Electronic address: [email protected].
⁵ Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China. Electronic address: [email protected].

PMID: 37948839
DOI: 10.1016/j.scr.2023.103242

Abstract

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.

MeSH terms

Cell Differentiation
Cytoskeletal Proteins / genetics
Humans
Induced Pluripotent Stem Cells* / metabolism
Infant
Intellectual Disability* / genetics
Intellectual Disability* / metabolism
Male
Mutation / genetics
Neurodevelopmental Disorders*
Transcription Factors / genetics
Transcription Factors / metabolism

Substances

AUTS2 protein, human
Cytoskeletal Proteins
Transcription Factors