Name：NTCC? NA17538 LCL DNA
Category分類(lèi)：DNA
Cat#貨號(hào):NTCC?-Coriell NA17538
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: 7 YR
Gender性別: Male
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; seizures; nonambulatory; abnormal sleep patterns; chewing/biting/swallowing difficulties; constipation; growth retardation; irritability and agitation; loss of purposeful hand use; muscle rigidity/spasticity; nonverbal; poor circulation in legs and feet; repetitive hand motions; small feet; teeth grinding; tremors; period of normal development until 6-8 months; affected sister is GM17540; 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(hào):
Cell Type細(xì)胞類(lèi)型: LCL
Source組織來(lái)源: LCL
Gene: MECP2
Disease疾病類(lèi)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(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(huà)：400-800-2947
Email：Biovector@163.com
http://www.biovector.net