Name：NTCC? NA22230 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA22230
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: 10 YR
Gender性別: 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其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: NPC1
Disease疾病類型:
Mutations突變: ARG978CYS IVS21-2A>G
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