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 10
Relation to Proband daughter
Confirmation Clinical summary/Case history
ISCN 46,XX.arr(1-22,X)x2
Species Homo sapiens
Common Name Human
Remarks onset at age 18 years; HTT CAG repeats are 18 and 60; similarly affected grandmother and father; see GM03620A Lymphoid.
PDL at Freeze 6.21
Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis
 
Remark onset at age 18 years; HTT CAG repeats are 18 and 60; similarly affected grandmother and father; see GM03620A Lymphoid.
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
 
Wong, Sodium-independent glutamic acid binding in cultured fibroblasts from patients with Huntington's disease. Neurochem Int6:245 (1984):605-18 1984
PubMed ID: 16476778
 
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 
Cumulative PDL at Freeze 10.5
Passage Frozen 8
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM
Serum 15% fetal bovine serum Not inactivated
Substrate None specified