ERS17282558
SRA accession
induced pluripotent stem cell
http://www.ebi.ac.uk/efo/EFO_0004905
cell type
myotonic dystrophy type 1
http://purl.obolibrary.org/obo/MONDO_0008056
disease state
SAMN00795392
donor id
cell line
http://www.ebi.ac.uk/efo/EFO_0000322
material
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
distal atrophy of arms and legs
phenotype
myotonia evident with hand grip and after thenar percussion
phenotype
hypotonia in infancy
phenotype
problems with articulation of language
phenotype
thin face with weakness of the facial musculature
phenotype
mildly reduced strength in neck flexion and distal upper extremity musculature
phenotype
high-arched palate
phenotype
myotonic facies
phenotype
thin extremitites with relatively reduced muscle bulk
phenotype
incomplete eyelid closure
phenotype
myotonia on EMG
phenotype
female
http://purl.obolibrary.org/obo/PATO_0000383
sex
GM04601 clone 21
synonym
GM04601-21
synonym
Induced Pluripotent Stem Cell Line CBRCULi012-A
title