NA04619
DNA from Fibroblast
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
GeT-RM Samples
dbGaP |
| Class |
Congenital Muscle Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.65 |
| Passage Frozen |
6 |
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| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
300377.0082; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
ARG2905TER |
| 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)] |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Woodhead, Avril D., Blackett, Anthony D., and Hollaender, Alexander (editors), Molecular Biology of Aging Mutat Res184(1):pp 315-344 1985 |
| PubMed ID: 2955220 |
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| Tarone RE, Scudiero DA, Robbins JH, Statistical methods for in vitro cell survival assays. Mutat Res111:79-96 1983 |
| PubMed ID: 6621576 |
| 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 |
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BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
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CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
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MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
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