Generation of iPSC line NCHi015-A from a patient with truncus arteriosus carrying heterozygous variants in KMT2D and NOTCH1

被引：0
|
作者：
Wang, Jerry [1 ,2 ]
Bering, Jakob [1 ,2 ]
Alonzo, Matthew [1 ,2 ]
Ye, Shiqiao [1 ,2 ]
Texter, Karen [2 ,3 ]
Garg, Vidu [1 ,2 ,3 ,4 ]
Zhao, Ming -Tao [1 ,2 ,3 ,4 ]
机构：
[1] Nationwide Childrens Hosp, Abigail Wexner Res Inst, Ctr Cardiovasc Res, Columbus, OH 43215 USA
[2] Nationwide Childrens Hosp, Heart Ctr, Columbus, OH USA
[3] Ohio State Univ, Dept Pediat, Coll Med, Columbus, OH USA
[4] Ohio State Univ, Dorothy M Davis Heart & Lung Res Inst, Wexner Med Ctr, Columbus, OH 43210 USA
来源：
STEM CELL RESEARCH | 2024年 / 78卷
关键词：
D O I：
10.1016/j.scr.2024.103457
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Truncus arteriosus (TA) is a congenital heart defect where one main blood vessel emerges from the heart, instead of individual aorta and pulmonary artreries. Peripheral mononuclear cells (PBMCs) of a male infant with TA were reporogrammed using Sendai virus. The resultant iPSC line (NCHi015-A) displayed normal colony formation, expressed pluripotency markers, and differentiated into cells from three germ layers. NCHi015-A was matched to the patient 's genetic profile, had normal karyotype, retained genetic variants in KMT2D and NOTCH1, and tested negative for reprogramming transgene. This iPSC line can be used for studying congenital heart defects associated with genetic variants in KMT2D and NOTCH1 .
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页数：5
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