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GM04619 Fibroblast from Skin, Unspecified

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

Affected:

Yes

Sex:

Male

Age:

13 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
GeT-RM Samples
dbGaP
Class Congenital Muscle Diseases
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected with Duchenne muscular dystrophy; diagnosed at age 7; calf hypertrophy; progressive muscular weakness; wheelchair bound sometime between ages 9 and 15; by age 9 there was toe walking, absent deep tendon reflexes, lordosis, contractures of the ankles, shoulder girdle strength grade IV, extreme weakness around pelvic girdle, suggestion of myopathic facies; by age 15 there was kyphoscoliosis, difficulty in raising arms up to face, difficulty maintaining head control; son of GM04621; CPK of 10,510; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed this donor has a C>T transition at nucleotide 8713 in exon 59 of the DMD gene (c.8713C>T) resulting in a stop at codon 2905 [Arg2905Ter (R2905X)]

Characterizations

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PDL at Freeze 5.65
Passage Frozen 6
 
Gene DMD
Chromosomal Location Xp21.2
Allelic Variant 1 300377.0082; DUCHENNE MUSCULAR DYSTROPHY
Identified Mutation ARG2905TER

Phenotypic Data

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Remarks Clinically affected with Duchenne muscular dystrophy; diagnosed at age 7; calf hypertrophy; progressive muscular weakness; wheelchair bound sometime between ages 9 and 15; by age 9 there was toe walking, absent deep tendon reflexes, lordosis, contractures of the ankles, shoulder girdle strength grade IV, extreme weakness around pelvic girdle, suggestion of myopathic facies; by age 15 there was kyphoscoliosis, difficulty in raising arms up to face, difficulty maintaining head control; son of GM04621; CPK of 10,510; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed this donor has a C>T transition at nucleotide 8713 in exon 59 of the DMD gene (c.8713C>T) resulting in a stop at codon 2905 [Arg2905Ter (R2905X)]

Publications

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Caputo L, Granados A, Lenzi J, Rosa A, Ait-Si-Ali S, Puri PL, Albini S, Acute conversion of patient-derived Duchenne muscular dystrophy iPSC into myotubes reveals constitutive and inducible over-activation of TGFß-dependent pro-fibrotic signaling Skeletal muscle10:13 2019
PubMed ID: 32359374
 
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875
 
Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L, Quality assurance for duchenne and becker muscular dystrophy genetic testing development of a genomic DNA reference material panel The Journal of molecular diagnostics : JMD13:167-74 2010
PubMed ID: 21354051
 
Nove J, Tarone RE, Little JB, Robbins JH, Radiation sensitivity of fibroblast strains from patients with Usher's syndrome, Duchenne muscular dystrophy, and Huntington's disease. Mutat Res184(1):29-38 1987
PubMed ID: 2955220
 
Woodhead, Avril D., Blackett, Anthony D., and Hollaender, Alexander (editors), Molecular Biology of Aging Mutat Res184(1):pp 315-344 1985
PubMed ID: 2955220
 
Tarone RE, Scudiero DA, Robbins JH, Statistical methods for in vitro cell survival assays. Mutat Res111:79-96 1983
PubMed ID: 6621576

External Links

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dbSNP dbSNP ID: 19147
NCBI GTR 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
OMIM 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Omim Description APO-DYSTROPHIN 1, INCLUDED
  BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED
  CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED
  MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD

Culture Protocols

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Passage Frozen 6
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 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
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$373.00USD
Academic/Non-profit/Government:
$216.00USD
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