Name：NTCC? NA17583 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA17583
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: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; also has triple X syndrome; normal growth parameters at birth; weak suck and poor weight gain in first few weeks of life; intestinal malrotation at 4 months; psychomotor development normal until 9 months when development slowed; walked at 16 months; head circumference and weight decreased at 6 months of age; regression of social skills evident at 20 months of age; bruxism, constipation and decreased sensitivity to pain developed at 21 months of age; significant delay in language development; no language and limited functional use of hands at age 6; MRI of cranium normal; EEG performed at 44 months showed intermittent occurence of epileptiform discharges, suggestive of partial seizures; supernumerary X chromosome is maternally derived; X-inactivation studies indicated preferential inactivation of the paternal allele; parental origin of MECP2 mutation could not be determined; donor subject has one allele that has a C>G transversion in the MBD coding region of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in a substitution of a valine for a leucine at codon 100 [Leu100Val (L100V)].
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: LEU100VAL
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