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首页 > 技术文章 > Coriell人类基因组DNA标准品(GM05114)现货供应

Coriell人类基因组DNA标准品(GM05114)现货供应

 更新时间:2024-04-25    点击量:446

产品名称:Coriell人类基因组DNA标准品(GM05114)现货供应

产品货号:GM05114

产品品牌:Coriell

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD

Affected:Yes

Sex:Male

Age:22 YR (At Sampling)

Overview

l RepositoryNIGMS Human Genetic Cell Repository

l SubcollectionHeritable Diseases  Muscular Dystrophies

l ClassCongenital Muscle Diseases

l Biopsy SourceUnspecified

l Cell Type Fibroblast

l Tissue TypeSkin

l TransformantUntransformed

l Sample SourceFibroblast from Skin, Unspecified

l RaceWhite

l Family Member2

l Relation to Probandbrother

l ConfirmationClinical summary/Case history

l SpeciesHomo sapiens

l Common NameHuman

l RemarksClinically affected with Duchenne muscular dystrophy; diagnosed at age 10; calf hypertrophy; progressive muscle weakness; toe walking, difficulty with stairs and frequent falls noted at age 4; wheelchair bound by age 10; by age 15 there was mild scoliosis, lumbar lordosis, contractures of the elbows, ankles, hips and knees, marked weakness in upper extremities, tight heelcords; by age 20 there was inability to flex hips against gravity, inability to raise hands above head; donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR; affected brother is GM05112/13; son of GM05116/17 (mother) and GM05118/19 (father); elevated CPK; same donor as GM05115 (lymphocyte).

欢迎订购:

货号

产品名称

GM05114

GM05114Fibroblast 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(GM05114),欢迎选购!

Coriell人类基因组DNA标准品(GM05114)现货供应


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