| Literature DB >> 27638001 |
Takayuki Kondo1, Misato Funayama1, Michiyo Miyake1, Kayoko Tsukita1, Takumi Era2, Hitoshi Osaka3, Takashi Ayaki4, Ryosuke Takahashi4, Haruhisa Inoue5.
Abstract
Entities:
Year: 2016 PMID: 27638001 PMCID: PMC5026774 DOI: 10.1186/s40478-016-0366-8
Source DB: PubMed Journal: Acta Neuropathol Commun ISSN: 2051-5960 Impact factor: 7.801
Summary of iPSCs in this study
| Clone name | Diagnosis | GFAP genotype | Sex | Age at onset | Age at sampling |
|---|---|---|---|---|---|
| HC1 | healthy | wild | female | - | 36 |
| HC2 | healthy | wild | female | - | 67 |
| HC3 | healthy | wild | male | - | 74 |
| Alex1 | Alexander disease type I | R239C (c.729C>T) | male | 2 | 6 |
| Alex2 | Alexander disease type I | E69K (c.205G>A) | female | 3 | 10 |
| Alex3 | Alexander disease type II | L264P (c.791_792TG>CT) | female | 33 | 45 |
Abbreviations: GFAP Glial fibrillary acidic protein, HC Healthy control
Alex1 was generated from patient fibroblasts (GM16825) from Coriell Institute (Camden, NJ)