Repository NIGMS Human Genetic Cell Repository
Subcollection Venezuelan Huntington Disease
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
Species Homo sapiens
Common Name Human
Remarks Code 48; rigid form of HD; possible homozygote; both parents affected; onset at age 14 years; neurological exam 3/82 shows a hypokinetic variant of HD with dystonia and marked tremor, ataxic wide-based gait; see GM04282A Lymphoid.
PDL at Freeze 5.7
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Remark Code 48; rigid form of HD; possible homozygote; both parents affected; onset at age 14 years; neurological exam 3/82 shows a hypokinetic variant of HD with dystonia and marked tremor, ataxic wide-based gait; see GM04282A Lymphoid.
Liu Y, Xue Y, Ridley S, Zhang D, Rezvani K, Fu XD, Wang H, Direct reprogramming of Huntington's disease patient fibroblasts into neuron-like cells leads to abnormal neurite outgrowth, increased cell death, and aggregate formation PloS one9:e109621 2014
PubMed ID: 25275533
 
Yu D, Pendergraff H, Liu J, Kordasiewicz HB, Cleveland DW, Swayze EE, Lima WF, Crooke ST, Prakash TP, Corey DR, Single-stranded RNAs use RNAi to potently and allele-selectively inhibit mutant huntingtin expression Cell150:895-908 2012
PubMed ID: 22939619
 
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
 
Li X, Standley C, Sapp E, Valencia A, Qin ZH, Kegel KB, Yoder J, Comer-Tierney LA, Esteves M, Chase K, Alexander J, Masso N, Sobin L, Bellve K, Tuft R, Lifshitz L, Fogarty K, Aronin N, DiFiglia M, Mutant huntingtin impairs vesicle formation from recycling endosomes by interfering with Rab11 activity Molecular and cellular biology29:6106-16 2009
PubMed ID: 19752198
 
Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ, Disease-Specific Induced Pluripotent Stem Cells Cell134(5):877-86 2008
PubMed ID: 18691744
 
Pal A, Severin F, Lommer B, Shevchenko A, Zerial M, Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease The Journal of cell biology172:605-18 2006
PubMed ID: 16476778
No data is available
Cumulative PDL at Freeze 5.7
Passage Frozen 5
Split Ratio 1:3
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
Substrate None specified