Generation of an induced pluripotent stem cell line (ZSZOCi001-A) from a patient with Knobloch syndrome caused by biallelic mutations in the gene COL18A1
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Developmental Biology,General Medicine
Reference5 articles.
1. Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation;Aikio;Invest. Ophthalmol. Vis. Sci.,2013
2. Collagen XVIII/endostatin is essential for vision and retinal pigment epithelial function;Marneros;EMBO J.,2004
3. Knobloch syndrome in a patient from Chile;Nakousi-Capurro;Am. J. Med. Genet. A,2020
4. Structure, function and tissue forms of the C-terminal globular domain of collagen XVIII containing the angiogenesis inhibitor endostatin;Sasaki;EMBO J.,1998
5. An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline;Wang;Front. Cell Dev. Biol.,2021
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