Journal
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
Volume 8, Issue -, Pages -Publisher
BIOMED CENTRAL LTD
DOI: 10.1186/s11689-016-9155-8
Keywords
ASD; Autism; iPSC; X-inactivation; X-reactivation; Developmental disorders; X chromosome; X-linked ASD; Female protective effect
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Funding
- Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health [U54 HD087011]
- NIH T35 NHLBI training grant
- NCBI award [NIHR01GM66815]
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Induced pluripotent stem cells (iPSCs) allow researchers to make customized patient-derived cell lines by reprogramming noninvasively retrieved somatic cells. These cell lines have the potential to faithfully represent an individual's genetic background; therefore, in the absence of available human brain tissue from a living patient, these models have a significant advantage relative to other models of neurodevelopmental disease. When using human induced pluripotent stem cells (hiPSCs) to model X-linked developmental disorders or inherited conditions that undergo sex-specific modulation of penetrance (e.g., autism spectrum disorders), there are significant complexities in the course and status of X chromosome inactivation (XCI) that are crucial to consider in establishing the validity of cellular models. There are major gaps and inconsistencies in the existing literature regarding XCI status during the derivation and maintenance of hiPSCs and their differentiation into neurons. Here, we briefly describe the importance of the problem, review the findings and inconsistencies of the existing literature, delineate options for specifying XCI status in clonal populations, and develop recommendations for future studies.
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