GM02150

GM02150 LCL from B-Lymphocyte

Description:

HUNTINGTON DISEASE; HD

Affected:

No Data

Sex:

Female

Age:

26 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of the Nervous System

Class

Disorders with Trinucleotide Expansions

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

daughter

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

At risk (50%); see GM02151 Fibroblast; personality disorder but no chorea; Neutral Alpha-glucosidase C phenotype= 2-1

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

At risk (50%); see GM02151 Fibroblast; personality disorder but no chorea; Neutral Alpha-glucosidase C phenotype= 2-1

Publications

Kay C, Collins JA, Caron NS, Agostinho LA, Findlay-Black H, Casal L, Sumathipala D, Dissanayake VHW, Cornejo-Olivas M, Baine F, Krause A, Greenberg JL, Paiva CLA, Squitieri F, Hayden MR, A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease American journal of human genetics105:1112-1125 2019

PubMed ID: 31708117

Martiniuk F, Hirschhorn R, Human neutral alpha-glucosidase C: genetic polymorphism including a "null" allele. Am J Hum Genet32:497-507 1980

PubMed ID: 6994494