Name：NTCC? NA18207 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA18207
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: 20 YR
Gender性別: Male
Description描述: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | FSHD GENE 1; FRG1
Remarks: Clinically affected; progressive weakness of arms and legs; frequent falls; exam revealed bifacial and scapular muscle weakness, winging of the scapulae, lower limb weakness and lordosis; elevated serum CPK; myopathic change on deltoid muscle biopsy; D4Z4 repeats for this donor subject are as follows: 4q35: 3/27 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 18/39 copies
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: FRG1
Disease疾病類型:
Mutations突變: D4Z4 REPEATS ON CHROMOSOME 4q35 (<10)
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