NTCC® NA22230 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA22230

Name：NTCC® NA22230 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA22230
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: 10 YR
Gender性别: Male
Description描述: NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1
Remarks: Clinically affected; diagnosed at age 10 1/2 years; neonatal jaundice; yellow sclerae for five days; enlarged spleen detected at age 5 years; clumsiness at age 7 years; learning difficulties beginning at age 8 years; ataxia observed at age 7-8 years; vertical gaze palsy observed at age 10 years; dysarthria observed at age 10 years; dysphagia detected at age 10 years; mild coughing when eating; mild cataplexy controlled by methylphenidate; affected sister is GM22229; donor subject is a compound heterozygote: one allele has an intronic mutation (IVS21-2A>G); the second allele has a C>T change at nucleotide 2932 in exon 20 of the NPC1 gene (2932C>T) resulting in the substitution of cysteine for arginine at codon 978 [Arg978Cys (R978C)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: NPC1
Disease疾病类型:
Mutations突变: ARG978CYS IVS21-2A>G
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