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 61
Relation to Proband maternal cousin
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Code 469; clinically affected; onset at age 27 years; affected sibs are GM04715 and GM04709; neurological exam 3/82 shows mild chorea, marginal dystonia, hypomimia, and bradykinesia; see GM04688A Lymphoid
PDL at Freeze 4.18
Passage Frozen 10
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Remark Code 469; clinically affected; onset at age 27 years; affected sibs are GM04715 and GM04709; neurological exam 3/82 shows mild chorea, marginal dystonia, hypomimia, and bradykinesia; see GM04688A Lymphoid
No data is available
No data is available
Passage Frozen 10
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM
Serum 15% fetal bovine serum Not inactivated
Substrate Commercially-treated plastic