Generation of an induced pluripotent stem cell line (CHFUi001-A) from an osteogenesis imperfecta patient with COL1A2 mutation
Osteogenesis Imperfecta (OI) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I procollagen, respectively. A human induced pluripotent stem cell (iPSC) line, termed as CHFUi001-A, w...
Main Authors: | Zhangqian Zheng, Wei Lu, Zhou Pei, Jun Chen, Tong Yang, Feihong Luo |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2020-08-01
|
Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120302087 |
Similar Items
-
Generation of a patient-specific induced pluripotent stem cell line, KSCBi006-A, for osteogenesis imperfecta type I with the COL1A1, c.3162delT mutation
by: Bo-Young Kim, et al.
Published: (2019-12-01) -
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients
by: Lidiia Zhytnik, et al.
Published: (2017-08-01) -
Restoration of Osteogenesis by CRISPR/Cas9 Genome Editing of the Mutated <i>COL1A1</i> Gene in Osteogenesis Imperfecta
by: Hyerin Jung, et al.
Published: (2021-07-01) -
A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta
by: Ahmed El-Gazzar, et al.
Published: (2021-12-01) -
Osteogenesis imperfecta: Hearing and genetic study of a family with a mutation in the COL1A1 gene
by: Leticia ACLE-CERVERA, et al.
Published: (2019-04-01)