PMID: 23036268

Wang XM, Yik WY, Zhang P, Lu W, Dranchak PK, Shibata D, Steinberg SJ, Hacia JG
The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis.
Stem Cell Res Ther. 2012 Oct 4;3(5):39. doi: 10.1186/scrt130., [PubMed]
Sentences
No. Mutations Sentence Comment
89 ABCD1 p.Ala616Val
X
ABCD1 p.Ala616Val 23036268:89:135
status: NEW
view ABCD1 p.Ala616Val details
 253_254insC; p.P84 CCALD2 306463 Male CCALD patient Age 11 yr, passage 8 for reprogramming CCALD2-iPS1 hemizygous ABCD1 c.1847C > T; p.A616V A TRAŴ1Ŵ60 SSEA4 AP OCT4 SOX2 NANOG ĐSMA TuJ1 AFP B Ectoderm Mesoderm Endoderm C Ectoderm Mesoderm Endoderm C Ectoderm Mesoderm Endoderm ALD1iPS4 G N C N CC LD2iPS1 P G C CCA Figure 1 Characterization of iPSCs from patient with CCALD. Login to comment