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Certification and Extension of the Period of Validity for Standard Reference Material® 2393 CAG Repeat Length Mutation in Huntington’s Disease

Published

Author(s)

Margaret C. Kline, Carolyn R. Steffen, David L. Duewer

Abstract

Standard Reference Material® (SRM®) 2393 is intended for use in the value assignment of the number of Huntington's Disease CAG trinucleotide repeats contained in a human genomic material. A unit of SRM 2393 consists of six component genomic DNA solutions, labeled A to F, extracted from cell lines derived from Huntington's Disease samples. This publication documents the production, analytical methods, and statistical evaluations involved in realizing this product and ensuring its continued validity.
Citation
Special Publication (NIST SP) - 260-203
Report Number
260-203

Keywords

CAG trinucleotide repeat, clinical reference material, HT gene locus 4p16.3, human nuclear DNA, Huntington’s Disease

Citation

Kline, M. , Steffen, C. and Duewer, D. (2020), Certification and Extension of the Period of Validity for Standard Reference Material® 2393 CAG Repeat Length Mutation in Huntington’s Disease, Special Publication (NIST SP), National Institute of Standards and Technology, Gaithersburg, MD, [online], https://doi.org/10.6028/NIST.SP.260-203 (Accessed April 22, 2021)
Created October 28, 2020