Name：NTCC? NA04981 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA04981
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 6 YR
Gender性別: Male
Description描述: MUSCULAR DYSTROPHY, BECKER TYPE; BMD | DYSTROPHIN; DMD
Remarks: Clinically affected; Becker type; positive Gower's sign; significant lordosis; pseudohypertrophy of calves; muscle weakness; atrophy of shoulder girdle musculature; muscle biopsy diagnosed muscular dystrophy with the comment "although the number of actively degenerating fibers in this sample is small, neither the character nor the degree of change enables one to distinguish Becker from Duchenne dystrophy"; elevated CPK of 2,840; PCR analysis of dystrophin gene shows deletion starting at (and including) exon 45 through at least exon 52; exon 60 is not deleted; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 45-53; 2 affected maternal uncles; for induced pluripotent stem cell line, see GM23262.
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: DMD
Disease疾病類型:
Mutations突變: EX45-53DEL
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net