Identification of a family with van der Hoeve’s syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs-Reference-Cited by-同舟云学术

Identification of a family with van der Hoeve’s syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs

Published:2024-02-20 Issue:3 Volume:37 Page:817-831
ISSN:1749-0774
Container-title:Human Cell
language:en
Short-container-title:Human Cell

Author:

Li SiJun,Mei Lingyun,He Chufeng,Cai Xinzhang,Wu Hong,Wu XueWen,Liu Yalan,Feng Yong,Song Jian^ORCID

Funder

National Natural Science Foundation of China

Major State Basic Research Development Program of China

Key Technologies Research and Development Program

Key Research and Development Program of Hunan Province of China

Fundamental Research Funds for Central Universities of the Central South University

Postdoctoral Research Foundation of China

Science and Technology Program of Hunan Province

Natural Science Foundation of Hunan Province

Health Commission of Hunan Province

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s13577-024-01028-3.pdf

Reference28 articles.

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2. Weiss NM. Rare Diseases of the Middle Ear and Lateral Skull Base. Laryngorhinootologie. 2021;100(S 01):S1-S30.

3. Claeys L, Storoni S, Eekhoff M, et al. Collagen transport and related pathways in Osteogenesis Imperfecta. Hum Genet. 2021;140(8):1121–41.

4. Steiner RD, Basel D. COL1A1/2 Osteogenesis Imperfecta. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews((R)). Seattle; 1993.

5. Whyte MP, Aronson J, McAlister WH, et al. Coalescing expansile skeletal disease: delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V. Bone. 2021;145: 115835.

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1. Re: Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs;Human Cell;2024-06-15