Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion
The features of 16p11.2 deletion phenotype is developmental delay, intellectual disability, and autism spectrum disorder. Seizures are observed in approximately 20% of individuals with the microdeletion. Induced pluripotent stem cells (iPSCs) were generated from erythroblasts obtained from a child d...
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Format: | Article |
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Elsevier
2022-03-01
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Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121004815 |
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author | Xinna Ji Yanyan Gao Pingping Zhang Ziqi Jin Yan Zhang Minna Yang Xue Zhang Qian Chen |
author_facet | Xinna Ji Yanyan Gao Pingping Zhang Ziqi Jin Yan Zhang Minna Yang Xue Zhang Qian Chen |
author_sort | Xinna Ji |
collection | DOAJ |
description | The features of 16p11.2 deletion phenotype is developmental delay, intellectual disability, and autism spectrum disorder. Seizures are observed in approximately 20% of individuals with the microdeletion. Induced pluripotent stem cells (iPSCs) were generated from erythroblasts obtained from a child diagnosed with benign familial infantile epilepsy, caused by 16p11.2 deletion. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro. |
first_indexed | 2024-04-11T18:06:55Z |
format | Article |
id | doaj.art-df41b120df964807bf4fb4f5ca33ddf3 |
institution | Directory Open Access Journal |
issn | 1873-5061 |
language | English |
last_indexed | 2024-04-11T18:06:55Z |
publishDate | 2022-03-01 |
publisher | Elsevier |
record_format | Article |
series | Stem Cell Research |
spelling | doaj.art-df41b120df964807bf4fb4f5ca33ddf32022-12-22T04:10:19ZengElsevierStem Cell Research1873-50612022-03-0159102634Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletionXinna Ji0Yanyan Gao1Pingping Zhang2Ziqi Jin3Yan Zhang4Minna Yang5Xue Zhang6Qian Chen7Department of Neurology, Capital Institute of Pediatrics, ChinaDepartment of Neurology, Capital Institute of Pediatrics, ChinaDepartment of Neurology, Capital Institute of Pediatrics, ChinaDepartment of Neurology, Capital Institute of Pediatrics, ChinaDepartment of Neurology, Capital Institute of Pediatrics, ChinaDepartment of Neurology, Capital Institute of Pediatrics, ChinaHarbin Medical University, ChinaDepartment of Neurology, Capital Institute of Pediatrics, China; Corresponding author at: Yabao road No. 2, Beijin 100020, China.The features of 16p11.2 deletion phenotype is developmental delay, intellectual disability, and autism spectrum disorder. Seizures are observed in approximately 20% of individuals with the microdeletion. Induced pluripotent stem cells (iPSCs) were generated from erythroblasts obtained from a child diagnosed with benign familial infantile epilepsy, caused by 16p11.2 deletion. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro.http://www.sciencedirect.com/science/article/pii/S1873506121004815 |
spellingShingle | Xinna Ji Yanyan Gao Pingping Zhang Ziqi Jin Yan Zhang Minna Yang Xue Zhang Qian Chen Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion Stem Cell Research |
title | Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion |
title_full | Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion |
title_fullStr | Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion |
title_full_unstemmed | Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion |
title_short | Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion |
title_sort | generation of a human ipsc line cipi001 a from a benign familial infantile epilepsy patient related 16p11 2 deletion |
url | http://www.sciencedirect.com/science/article/pii/S1873506121004815 |
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