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Article

Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.

Science translational medicine - 10 Feb 2021

Lizarraga Sofia B, Ma Li, Maguire Abbie M, van Dyck Laura I, Wu Qing, Ouyang Qing, Kavanaugh Brian C, Nagda Dipal, Livi Liane L, Pescosolido Matthew F, Schmidt Michael, Alabi Shanique, Cowen Mara H, Brito-Vargas Paul, Hoffman-Kim Diane, Gamsiz Uzun Ece D, Schlessinger Avner, Jones Richard N, Morrow Eric M

Abstract excerpt

Christianson syndrome (CS), an X-linked neurological disorder characterized by postnatal attenuation of brain growth (postnatal microcephaly), is caused by mutations in SLC9A6, the gene encoding endosomal Na+/H+ exchanger 6 (NHE6). To hasten treatment development, we established induced pluripotent stem cell (iPSC) lines from patients with CS representing a mutational spectrum, as well as biologically related and...

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Identifiers

PMID: 33568516
DOI: 10.1126/scitranslmed.aaw0682
PMCID: PMC7888381

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