Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S)

Zilin Chen; Hui Lv; Juehua Yu; Shuanfeng Fang; Fei Li

Stem Cell Research (May 2022)

Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S)

Zilin Chen,
Hui Lv,
Juehua Yu,
Shuanfeng Fang,
Fei Li

Affiliations

Zilin Chen: Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children’s Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Hui Lv: Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children’s Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Juehua Yu: Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children’s Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Center for Experimental Studies and Research, The First Affiliated Hospital of Kunming Medical University, Kunming 650032, China
Shuanfeng Fang: Department of Child Health Care, Children's Hospital Affiliated to Zhengzhou University, City Zhengzhou, China; Corresponding author.
Fei Li: Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children’s Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Corresponding author.

Journal volume & issue: Vol. 61
p. 102756

Abstract

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Mutations in the HDAC8 are considered to be a prominent cause of Cornelia de Lange syndrome 5, a leading cause of intellectual disability and social disability. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a 5-year-old girl diagnosed with autism spectrum disorder (ASD) who carries a heterozygous mutation in HDAC8 (c.1075C > T, p.Pro359Ser).

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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