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

Qian Fu; Hui Wang; Nan Zhou; Yeping Jiang; Ying Liang; Fan Duan; Lan Mi

Stem Cell Research (Jul 2021)

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

Qian Fu,
Hui Wang,
Nan Zhou,
Yeping Jiang,
Ying Liang,
Fan Duan,
Lan Mi

Affiliations

Qian Fu: Department 2 of Nephrology, Beijing Children′s Hospital Affiliated to Capital Medical University, Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children, Ministry of Education, National Center for Children’s Health, China
Hui Wang: Department 2 of Nephrology, Beijing Children′s Hospital Affiliated to Capital Medical University, Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children, Ministry of Education, National Center for Children’s Health, China; Corresponding author.
Nan Zhou: Department 2 of Nephrology, Beijing Children′s Hospital Affiliated to Capital Medical University, Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children, Ministry of Education, National Center for Children’s Health, China
Yeping Jiang: Department 2 of Nephrology, Beijing Children′s Hospital Affiliated to Capital Medical University, Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children, Ministry of Education, National Center for Children’s Health, China
Ying Liang: Department 2 of Nephrology, Beijing Children′s Hospital Affiliated to Capital Medical University, Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children, Ministry of Education, National Center for Children’s Health, China
Fan Duan: School of Pediatrics, Capital Medical University, China
Lan Mi: School of Pediatrics, Capital Medical University, China

Journal volume & issue: Vol. 54
p. 102428

Abstract

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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).

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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