Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene.

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Tác giả: Liani G Devito, Lyn Healy, Yunsong Jiang, Francesco Muntoni, Francesco Saverio Tedesco

Ngôn ngữ: eng

Ký hiệu phân loại: 671.332 Forging

Thông tin xuất bản: England : Stem cell research , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 217013

Ullrich congenital muscular dystrophy (UCMD) represents the most severe subtype of collagen VI-related dystrophies (COL6-RDs), a spectrum of rare extracellular matrix disorders affecting skeletal muscle and connective tissue. Here, we generated an induced pluripotent stem cell (iPSC) line (CRICKi021-A) from a UCMD patient with de novo dominant-negative mutation in COL6A1 gene by reprogramming dermal fibroblasts using a non-integrating mRNA-based protocol. The resulting human iPSCs displayed normal morphology, expressed pluripotency-associated markers and differentiated into the three germ layers. This new COL6A1-mutant iPSC line can be employed for disease modelling and for investigating potential therapies for COL6-RDs.
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