Name：NTCC? NA16270 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA16270
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 6 YR
Gender性別: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; symptoms began at 6 months of age; head circumference deceleration; developmental delay; nonambulatory; nonverbal; no hand use; repetitive hand motions; rigidity/spasticity with low muscle tone; tremor; seizures; EEG showed minor abnormalities; eating difficulties with reflux; some teeth grinding; some constipation; breathing problems; slight spinal curve; small feet; circulation problems; history of leucomoid reaction; some sleep problems; the donor subject carries a C-to-T change at nucleotide 763 (CGA>TGA) in the gene encoding methyl-CpG binding protein 2 (MECP2) which results in an arginine-to-stop codon at position 255 [ARG255TER (R255X)].
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來(lái)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(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net