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Optical Genome Mapping of the human reference iPSC line KOLF2.1J reveals new smaller structural variants in neurodevelopmental genes

2024-10-19

Abstract excerpt

<h4>Summary</h4> The INDI consortium curated the KOLF2.1J human iPSC line to create a reference cell line for neurological disease modeling. However, despite careful assessments, two separate studies found using SNP arrays identified five structural variants (SVs) with sizes >100kbp. Two heterozygous SVs overlap the genes JARID2, DTNBP1 , and ASTN2 , raising concerns about KOLF2.1J’s suitability as a reference...

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Literature Corpus work: 605c3294-247d-561b-9470-a13e6a4c0069
DOI: 10.1101/2024.10.17.618968

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