Name：NTCC? NA16497 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA16497
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: 13 YR
Gender性別: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; abnormal EEG and sleep patterns; ambulatory with assistance; breath holding and teeth grinding; loss of purposeful hand use; nonverbal; repetitive hand motions; scoliosis; seizures; muscle rigidity; spasticity; joint contractures; growth retardation; donor subject has a 763C>T nonsense mutation in exon 4 of the gene encoding methyl-CpG binding protein 2 (MECP2), resulting in a substitution of a stop codon for a conserved arginine at codon 255 [ARG255TER (R255X)] in the transcriptional-repression (TRD) functional domain.
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: ARG255TER
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