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Article

Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.

Cell reports - 6 Jul 2021

Wegscheid Michelle L, Anastasaki Corina, Hartigan Kelly A, Cobb Olivia M, Papke Jason B, Traber Jennifer N, Morris Stephanie M, Gutmann David H

Abstract excerpt

Neurodevelopmental disorders are often caused by chromosomal microdeletions comprising numerous contiguous genes. A subset of neurofibromatosis type 1 (NF1) patients with severe developmental delays and intellectual disability harbors such a microdeletion event on chromosome 17q11.2, involving the NF1 gene and flanking regions (NF1 total gene deletion [NF1-TGD]). Using patient-derived human induced pluripotent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34233200
DOI: 10.1016/j.celrep.2021.109315
PMCID: PMC8278229

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