Name：NTCC? NA19978 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA19978
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物種來源:
Age年齡: 16 YR
Gender性別: Male
Description描述: SOTOS SYNDROME | NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX DOMAIN PROTEIN 1; NSD1
Remarks: Clinically affected; born at 35-36 weeks gestation; birth weight 3.18 kg (91st centile); jaundice and feeding difficulty in neonatal period; severe intellectual impairment; overgrowth; height 91-98th centile; weight >99.6th centile; head circumference 98th centile; no family history of Sotos syndrome or intellectual impairment; unaffected parents negative for NSD1 mutations; mother is GM19976; father is GM19974; advanced bone age; 46,XY; negative Fragile X testing; donor subject found to have missense mutation, a G>A change at nucleotide 6014 in exon 20 of the NSD1 gene (6014G>A) causing an arginine to glutamine change at codon 2005 [Arg2005Gln (R2005Q)].
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: NSD1
Disease疾病類型:
Mutations突變: ARG2005GLN
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