GM04282

GM04282 LCL from B-Lymphocyte

Description:

HUNTINGTON DISEASE; HD

Affected:

Yes

Sex:

Female

Age:

20 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Venezuelan Huntington Disease
Heritable Diseases
GeT-RM Samples

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

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; onset at age 14 years; code 48; rigid form of HD; ataxic, wide-based gait; 46,XX; possible homozygote; neurological exam at age 22 showed hypokinetic variant of HD with dystonia and marked tremor; both parents are affected; see GM04281 for fibroblast.

Investigators ordering this cell line may, after receiving the culture, tender a request in writing for the available CAG repeat data for this individual.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis

Phenotypic Data

Remarks

Publications

De Luca A, Morella A, Consoli F, Fanelli S, Thibert JR, Statt S, Latham GJ, Squitieri F, A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene ( International journal of molecular sciences22: 2021

PubMed ID: 33567536

Zhao M, Cheah FSH, Tan ASC, Lian M, Phang GP, Agarwal A, Chong SS, Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping Scientific reports9:16481 2019

PubMed ID: 31712634

Goula AV, Stys A, Chan JP, Trottier Y, Festenstein R, Merienne K, Transcription elongation and tissue-specific somatic CAG instability PLoS genetics8:e1003051 2012

PubMed ID: 23209427

Jama M, Millson A, Miller CE, Lyon E, Triplet repeat primed PCR simplifies testing for huntington disease The Journal of molecular diagnostics : JMD15:255-62 2012

PubMed ID: 23414820

Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS, Development of genomic reference materials for Huntington disease genetic testing Genetics in medicine : official journal of the American College of Medical Genetics9:719-23 2007

PubMed ID: 18073586

Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayan J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS Jr, Landwehrmeyer B; U.S.-Venezuela Collaborative Research Project, Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A101(10):3498-503 2004

PubMed ID: 14993615