Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Nervous System
Class Disorders with Trinucleotide Expansions
Cell Type Fibroblast
Transformant Untransformed
Race Caucasian
Family Member 3
Relation to Proband daughter
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks At risk (50%) ; see GM2182 Lymphoid
Passage Frozen 3
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
Remark At risk (50%) ; see GM2182 Lymphoid
Koyuncu S1, Saez I1, Lee HJ1, Gutierrez-Garcia R1, Pokrzywa W1,2, Fatima A1, Hoppe T1, Vilchez D3., The ubiquitin ligase UBR5 suppresses proteostasis collapse in pluripotent stem cells from Huntington's disease patients Nature Communications9:2886 2018
PubMed ID: 30038412
Schwab AJ, Sison SL, Meade MR, Broniowska KA, Corbett JA, Ebert AD, Decreased Sirtuin Deacetylase Activity in LRRK2 G2019S iPSC-Derived Dopaminergic Neurons Stem cell reports9:2886 2017
PubMed ID: 29129681
Chua CC, Geiman DE, Ladda RL, Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease. Biochem Biophys Res Commun111:690-9 1983
PubMed ID: 6220707
View pedigree 
Passage Frozen 3
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA