Name：NTCC? NA09677 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA09677
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: 2 YR
Gender性別: Male
Description描述: SPINAL MUSCULAR ATROPHY I; SMA1
Remarks: Expired at age 23 months; hypotonia; decreased muscle bulk; absent deep tendon reflexes; possible fasciculations; normal CPK; abnormal EMG and muscle biopsy consistent with the diagnosis; donor subject has 3 copies of the SMN2 gene (data from several sources including Stabley et al. 2015, PMID 26247043) and is homozygous for deletion of exons 7 and 8 of the SMN1 gene; negative family history; eye lens fibroblast culture.
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: SMN1
Disease疾病類型:
Mutations突變: EX7-8DEL
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