Generation of a human iPSC line from a Bardet-Biedl syndrome patient compound heterozygous for the BBS7 variants c.849+1G > C/c.754G > A

被引：0

作者：

Fu, Qian ^{[1
]}

Wang, Hui ^{[1
]}

Zhou, Nan ^{[1
]}

Jiang, Yeping ^{[1
]}

Liang, Ying ^{[1
]}

Duan, Fan ^{[2
]}

Mi, Lan ^{[2
]}

机构：

[1] Capital Med Univ, Beijing Key Lab Chron Renal Dis & Blood Purificat, Beijing Childrens Hosp,Dept Nephrol 2, Minist Educ,Natl Ctr Childrens Hlth,Key Lab Major, Beijing, Peoples R China

[2] Capital Med Univ, Sch Pediat, Beijing, Peoples R China

来源：

STEM CELL RESEARCH | 2021年 / 54卷

关键词：

COMPLEX;

D O I：

10.1016/j.scr.2021.102428

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Bardet-Biedl syndrome (BBS) is primarily a multisystem nonmotile ciliopathy. In this study, we describe the successful establishment and characterization of an iPSC line from a patient diagnosed with BBS who was compound heterozygous for the BBS7 variants c.849 + 1G > C (splicing) and c.754G > A (p.D252N).

引用

页数：4

共 4 条

[1] Loss of C-elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport [J].