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Series GSE50441 Query DataSets for GSE50441
Status Public on Jan 30, 2014
Title Paternal segmental isodisomy of centromeric region on chromosome 1 as a cause of juvenile hemochromatosis
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
SNP genotyping by SNP array
Summary Juvenile hemochromatosis type 2A in the studied patient was caused by a homozygous mutation c.196G>T (p.G66*) in hemojuvelin.
Homozygous state for this mutation evolved through interstitial segmental isodisomy encompassing the centromeric region of chromosome 1 accompanying its paternal disomy.
The disomy resulted into normal karyotype
Overall design SNP genotyping was performed on 3 samples - family trio. Affymetrix GeneChip Command Console software was used for image processing and CEL files were processed by Affymetrix GTC using the BRLMM-P-Plus algorithm and regional GC correction configuration for Copy Number/LOH analysis. The HapMap270 file supplied by Affymetrix was used as the reference.
Contributor(s) Neřoldová M, Stranecky V, Jirsa M
Citation(s) 24635876
Submission date Aug 29, 2013
Last update date Nov 27, 2018
Contact name Viktor Stranecky
Organization name Charles University
Department 1st Faculty of Medicine
Lab Institute of inherited metabolic disorders
Street address Ke Karlovu 2
City Prague
ZIP/Postal code 128 00
Country Czech Republic
Platforms (1)
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Samples (3)
GSM1219350 Proband_affected
GSM1219351 Father_healthy
GSM1219352 Mother_healthy
BioProject PRJNA217496

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE50441_RAW.tar 123.7 Mb (http)(custom) TAR (of CEL, CHP)
Processed data included within Sample table
Processed data provided as supplementary file

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