Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S)
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 disord...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-05-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122001052 |
| _version_ | 1818275159245586432 |
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| author | Zilin Chen Hui Lv Juehua Yu Shuanfeng Fang Fei Li |
| author_facet | Zilin Chen Hui Lv Juehua Yu Shuanfeng Fang Fei Li |
| author_sort | Zilin Chen |
| collection | DOAJ |
| description | 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). |
| first_indexed | 2024-12-12T22:25:19Z |
| format | Article |
| id | doaj.art-823ad4e3488f4cbe80e6b51203bf1d51 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-12T22:25:19Z |
| publishDate | 2022-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-823ad4e3488f4cbe80e6b51203bf1d512022-12-22T00:09:48ZengElsevierStem Cell Research1873-50612022-05-0161102756Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S)Zilin Chen0Hui Lv1Juehua Yu2Shuanfeng Fang3Fei Li4Developmental 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, ChinaDevelopmental 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, ChinaDevelopmental 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, ChinaDepartment of Child Health Care, Children's Hospital Affiliated to Zhengzhou University, City Zhengzhou, China; Corresponding author.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.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).http://www.sciencedirect.com/science/article/pii/S1873506122001052 |
| spellingShingle | Zilin Chen Hui Lv Juehua Yu Shuanfeng Fang Fei Li Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S) Stem Cell Research |
| title | Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S) |
| title_full | Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S) |
| title_fullStr | Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S) |
| title_full_unstemmed | Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S) |
| title_short | Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S) |
| title_sort | generation of an induced pluripotent stem cell line sjtuxhi001 a from an autism spectrum disorder patient carrying a heterozygous mutation in hdac8 p p359s |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122001052 |
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