GM04281 cell line细胞株 BioVector NTCC质粒载体菌种细胞基因保藏中心

GM04281 cell line细胞株

GM04281Fibroblast
Description:
HUNTINGTON DISEASE; HD
Affected:
Yes
Sex:
Female
Age:
20 YR (At Sampling)

Subcollection Venezuelan Huntington Disease
Heritable Diseases
Class Disorders of the Nervous System
Class Disorders with Trinucleotide Expansions
Cell Type Fibroblast
Transformant Untransformed
Race White
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.

IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Passage Frozen 5
Split Ratio 1:2
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

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.

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