Large structural variants in KOLF2.1J are unlikely to compromise neurological disease modeling

作者：Mallory Ryan, Justin A. McDonough, Michael E. Ward, Mark Cookson, William C. Skarnes, Florian T. Merkle · 发表于：Cell stem cell · 年份：2024 · DOI：10.1016/j.stem.2024.02.006 · 被引用次数：12 · 研究领域：Genomic variations and chromosomal abnormalities、Genomics and Rare Diseases、Congenital heart defects research

Gracia-Diaz and colleagues analyzed high-density DNA microarray and whole-genome sequencing (WGS) data from the KOLF2.1J “reference” human induced pluripotent stem cell (hiPSC) line1 and report the presence of five high-confidence heterozygous copy number variants (CNVs) at least 100 kbp in length.2 Since three of these CNVs span coding genes, some of which have been associated with neurodevelopmental disease, the authors raise the concern that these CNVs may compromise the utility of KOLF2.1J for neurological disease modeling.