Name：NTCC? NA17540 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA17540
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: 9 YR
Gender性別: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; seizures; ambulatory; occasional irritability and agitation; loss of purposeful hand use; repetitive hand motions; period of normal development until 6-8 months; affected brother is GM17538; mother is GM17539; mother is clinically unaffected but carries same mutation as her two affected children; donor subject carries a missense mutation (C>G) at nucleotide 401 (401C>G) in the gene encoding methyl-CpG binding protein 2 (MECP2), resulting in a substitution of a cysteine for a serine at amino acid 134 [SER134CYS (S134C)].
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: MECP2
Disease疾病類型:
Mutations突變: SER134CYS
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