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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