產(chǎn)品名稱：Coriell人類基因組DNA標準品(GM05114)現(xiàn)貨供應
產(chǎn)品貨號：GM05114
產(chǎn)品品牌：Coriell
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD
Affected:Yes
Sex:Male
Age:22 YR (At Sampling)
Overview：
l Repository：NIGMS Human Genetic Cell Repository
l Subcollection：Heritable Diseases Muscular Dystrophies
l Class：Congenital Muscle Diseases
l Biopsy Source：Unspecified
l Cell Type： Fibroblast
l Tissue Type：Skin
l Transformant：Untransformed
l Sample Source：Fibroblast from Skin, Unspecified
l Race：White
l Family Member：2
l Relation to Proband：brother
l Confirmation：Clinical summary/Case history
l Species：Homo sapiens
l Common Name：Human
l Remarks：Clinically 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).
歡迎訂購：
貨號 | 產(chǎn)品名稱 |
GM05114 | GM05114Fibroblast from Skin, Unspecified |
天津益元利康生物科技有限公司現(xiàn)貨供應Coriell人類基因組DNA標準品(GM05114)，歡迎選購！
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