NA05089
DNA from Fibroblast
Description:
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
DYSTROPHIN; 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 |
| 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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ISCN
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arr Xp21.1(32748557-32808436)x0
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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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| Passage Frozen |
2 |
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| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
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| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX3-5DEL |
| Remarks |
Clinically affected; Becker type; diagnosed at age 8; progressive muscle weakness; calf hypertrophy; by age 27 there was proximal muscle weakness, increasing difficulty in coming to standing position, inability to extend ankles to 90 degrees, markedly weak quadricep muscle with inability to extend legs against gravity at the knees; seizure disorder; elevated CPK; muscle biopsy showed inflammatory and fibronic changes (processed by formal and fixed parafin section analysis); donor subject has a deletion of exons 3-5 in the dystrophin gene as determined by multiplex PCR; same donor as GM05090 Lymphoid |
| Zhang Y, Li Y, Hu Q, Xi Y, Xing Z, Zhang Z, Huang L, Wu J, Liang K, Nguyen TK, Egranov SD, Sun C, Zhao Z, Hawke DH, Li J, Sun D, Kim JJ, Zhang P, Cheng J, Farida A, Hung MC, Han L, Darabi R, Lin C, Yang L, The lncRNA H19 alleviates muscular dystrophy by stabilizing dystrophin Nature cell biology22:1332-1345 2020 |
| PubMed ID: 33106653 |
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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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| Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ, Disease-Specific Induced Pluripotent Stem Cells Cell134(5):877-86 2008 |
| PubMed ID: 18691744 |
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