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 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY.arr(1-22)x2,(XY)x1
Species Homo sapiens
Common Name Human
Remarks Juvenile onset
PDL at Freeze 7.15
Passage Frozen 9
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
Remark Juvenile onset
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
Brandstaetter H, Kruppa AJ, Buss F, Huntingtin is required for ER-to-Golgi transport and for secretory vesicle fusion at the plasma membrane Disease models & mechanisms7:1335-40 2014
PubMed ID: 25368120
Fiszer A, Mykowska A, Krzyzosiak WJ, Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats Nucleic acids research39:5578-85 2011
PubMed ID: 21427085
de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ, Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference Nucleic acids research39:3852-63 2011
PubMed ID: 21247881
Liu CR, Chang CR, Chern Y, Wang TH, Hsieh WC, Shen WC, Chang CY, Chu IC, Deng N, Cohen SN, Cheng TH, Spt4 is selectively required for transcription of extended trinucleotide repeats Cell148:690-701 2011
PubMed ID: 22341442
Sathasivam K, Amaechi I, Mangiarini L, Bates G, Identification of an HD patient with a (CAG)180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage. Hum Genet99(5):692-695 1997
PubMed ID: 9150744
Oki J, Miyamoto A, Itoh J, Kusunoki Y, Cho K, [A longitudinal study of children with language delay at 3 years of age; later WPPSI and school attendance] No to hattatsu Brain and development24:3-8 1992
PubMed ID: 1731826
No data is available
Cumulative PDL at Freeze 7.15
Passage Frozen 9
Split Ratio 1:1.7
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated