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022-66387942产品名称:Coriell人类基因组DNA标准品(GM05017)现货供应
产品货号:GM05017
产品品牌:Coriell
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD
Affected:Yes
Sex:Male
Age:12 YR (At Sampling)
Overview:
Repository:NIGMS Human Genetic Cell Repository
Subcollection:Heritable Diseases Muscular Dystrophies 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; diagnosis made at age 4; progressive muscular dystrophy; weakness; waddling gait noted at age 4 and subsequent progressive deterioration in walking ability; wheelchair bound by age 10; at age 10 there was good upper arm strength, no scoliosis, inability to lift leg off wheelchair pad; son of GM05022/23; elevated CPK; muscle biopsy performed but results unavailable; donor subject has a deletion of exons 45-50 in the dystrophin gene as determined by multiplex PCR; same donor as GM05016 (lymphocyte).
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货号 | 产品名称 |
GM05017 | GM05017Fibroblast 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(GM05017),欢迎选购!