产品名称：Coriell人类基因组DNA标准品(GM04364)现货供应
产品货号：GM04364
产品品牌：Coriell
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD
Affected:Yes
Sex:Male
Age:13 YR (At Sampling)
Overview：
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 sometime before age 10; calf hypertrophy; Gower's maneuver; ambulatory at age 10; muscle testing at age 10 showed most muscles to be in fair to poor range but good muscle power demonstrated in hamstrings, posterior and anterior tibs and upper trapezius; at age 10 there were tight heelcords, tightness of the hip flexors, hamstrings and knees; son of GM04363; elevated CPK; muscle biopsy showed classical histological findings of Duchenne muscular dystrophy; donor subject shows a deletion of exons 51-55 of the dystrophin gene by multiplex ligation probe amplification (MLPA) analysis.
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货号 | 产品名称 |
GM04364 | GM04364Fibroblast from Skin, Unspecified |
天津益元利康生物科技有限公司现货供应Coriell人类基因组DNA标准品(GM04364)，欢迎选购！
