Study: JGAS00000000094

Identifier

AccessionJGAS00000000094

Description

TitleThe elucidation of molecular mechanisms of hematopoietic stem cells focusing on paroxysmal nocturnal hemoglobinuria (PNH)-type cells
Abstract To elucidate the pathogenicity of aplastic anemia, we conducted exome seqence analysis in 5 patients with aplastic anemia with uniparental disomy in 6p.
Study Type
Study TypeTumor vs. Matched-Normal

Publication

PubMed ID29720492
Publication Statuspublished
DB TypePUBMED

Study Attribute

NBDC Numberhum0097
Registration date2017-01-24
Submitting organizationClinical Laboratory Science, Division of Health Sciences, Kanazawa University Graduate School of Medical Science
Principal InvestigatorTakamasa Katagiri
Molecular Data TypeWhole Exome Sequencing
PlatformHiSeq 2500
VendorIllumina
Comment
Primary PhenotypeAplastic Anemia
Dataset
Accession Title Dataset type Data objects Policy
JGAD00000000094 Exome analysis in patients with aplastic anemia with uniparental disomy in 6p Exome sequencing 15 JGAP00000000001