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GM03928 LCL from B-Lymphocyte

Description:

DYSTROPHIA MYOTONICA 1; DM1
APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Female

Age:

32 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
Class Disorders of Connective Tissue, Muscle, and Bone
Class Disorders with Trinucleotide Expansions
Alternate IDs GM18013 [DYSTROPHIA MYOTONICA 1; DM1]
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 3
Relation to Proband spouse
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically normal; mother of GM03696C; wife of GM03759A Fibro (proband); no visible expansion of CTG repeat by Southern analysis

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
CTG TRINUCLEOTIDE REPEAT EXPANSION ANALYSIS Mutational analysis of DNA from this unaffected mother of a subject with myotonic dystrophy performed by Dr. Robert G. Korneluk, Molecular Genetics Laboratory, Children's Hospital of Eastern Ontario, Canada, showed that there was no expanded allele on genomic Southerns or by PCR typing.
 

Phenotypic Data

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Remarks Clinically normal; mother of GM03696C; wife of GM03759A Fibro (proband); no visible expansion of CTG repeat by Southern analysis

Publications

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Leferink M, Wong DPW, Cai S, Yeo M, Ho J, Lian M, Kamsteeg EJ, Chong SS, Haer-Wigman L, Guan M, Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test Scientific reports9:8280 2019
PubMed ID: 31164682
 
Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS, Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J19(17):4439-48 2000
PubMed ID: 10970838

External Links

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dbSNP dbSNP ID: 18902
NCBI GTR 160900 MYOTONIC DYSTROPHY 1; DM1
OMIM 160900 MYOTONIC DYSTROPHY 1; DM1
Omim Description DM PROTEIN KINASE, INCLUDED
  DYSTROPHIA MYOTONICA; DM
  DYSTROPHIA MYOTONICA; DMPK
  MYOTONIC DYSTROPHY
  MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED
  MYOTONIN-PROTEIN KINASE, INCLUDED
  STEINERT DISEASEDM-KINASE, INCLUDED; DMK, INCLUDED

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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