NTCC® NA23989 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23989

Name：NTCC® NA23989 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23989
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 3 YR
Gender性别: Male
Description描述: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
Remarks: Subject is clinically affected; diagnosed at newborn screening with first symptoms at 29 months; history of past hyperammoneic events; cholestasis; developmentally on target: walks, runs, climbs, plays with a ball, scribbles, colors, speaks 50-100 words in 2 languages (Mandarin-Chinese and Fuju); citrulline levels 483 umol/L in blood, mutations in the SLC25A13 gene: 1638_1660dup23 (p.A554G1sX16) and 615+5G>A; neurological evaluation at age 3 showed tone changes; tolerates high-protein, low-carbohydrate diet (ElaCare formula).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SLC25A13
Disease疾病类型:
Mutations突变: c.1638_1660dup23 c.615+5g>a
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net