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ID 1414
Class Mammalia
Species Homo sapiens
Tissue Brain
Sample Tissue
Disease type Charcot-Marie-Tooth neuropathy
Cell type Neural cells
Cell type (subtype) Motor neuronal cell
Cell marker GAP43, MAPT, SYP, LHX1, SLC18A3, ISL1, MNX1, DCC, ONECUT2, CHAT, LHX3, ONECUT1
Frequency
PubMed ID 29888333
Journal Neurol Genet
SCI IF 3.509
Evidence a neural identity, depicted in t-SNE projections colored by the expression of MAP2, microtubule-associated protein tau (MAPT), growthassociated protein 43 (GAP43), and synaptophysin (SYP) The captured neurons also expressed motor neuronal markers as depicted in figure 4C in which CHAT, SLC18A3, ISL1, MNX1, LHX1, LHX3, DCC, ONECUT1, and ONECUT2 are summed, indicating that these neurons are part of the motor neuronal lineage
Title Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
Authors Markus T. Sainio et al.
Date 2018.6
Data available NA