建立一株人诱导多能干细胞系 KMUGMCi002-A，来源于一位携带 NIPBL 基因杂合 c.6362_6364del 突变的患者，该突变导致 Cornelia de Lange 综合征（CdLS）。
Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS).
机构信息
Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan.
Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan.
出版信息
Stem Cell Res. 2022 Aug;63:102860. doi: 10.1016/j.scr.2022.102860. Epub 2022 Jul 9.
Cornelia de Lange syndrome (CdLS) is a multiple congenital anomalies syndrome caused by mutations in the cohesion complex. The mutations in NIPBL, one of cohesion regulatory proteins, are the most frequent cause of CdLS. The peripheral blood mononuclear cells (PBMCs) from a patient carrying a heterozygous 3 bp deletion in Exon 37 of the NIPBL gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit. The deleted mutation in NIPBL will cause the abnormal truncated protein, which is known to associated with CdLS. The established human induced pluripotent cell (hiPSC) line will enable proper in vitro disease modelling of CdLS. Resource Table.
康尼氏综合征（CdLS）是一种由黏合复合物突变引起的多种先天畸形综合征。黏合调节蛋白之一的 NIPBL 基因突变是导致 CdLS 的最常见原因。使用 CytoTune-iPS2.0 Sendai 重编程试剂盒对携带 NIPBL 基因外显子 37 中 3bp 缺失的杂合子患者的外周血单个核细胞（PBMC）进行重编程。NIPBL 中的缺失突变会导致异常截断的蛋白，这与 CdLS 有关。已建立的人类诱导多能干细胞（hiPSC）系将能够对 CdLS 进行适当的体外疾病建模。资源表。
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