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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Main Authors: Xinna Ji, Yanyan Gao, Pingping Zhang, Ziqi Jin, Yan Zhang, Minna Yang, Xue Zhang, Qian Chen
Format: Article
Language:English
Published: Elsevier 2022-03-01
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.
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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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