Name：NTCC? NA16546 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA16546
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: 15 YR
Gender性別: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; symptoms began at age 6 months; significantly abnormal EEG; breath holding; constipation, growth and mental retardation; limited purposeful hand use; nonverbal; repetitive hand motions; agitation; scoliosis; seizures; some tremors and teeth grinding; small hands and feet; severely microcephalic; gait apraxia and ataxia; donor subject is heterozygous for an 880C>T transition in the MECP2 gene resulting in an arg294-to-ter [ARG294TER (R294X)] nonsense mutation.
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: ARG294TER
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