Name：NTCC? NA20379 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA20379
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: 18 YR
Gender性別: Male
Description描述: CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 | PALMITOYL-PROTEIN THIOESTERASE 1; PPT1
Remarks: Clinically affected; visual problems at age 1 year; seizures at age 3 years; movement dysfunction at age 16 years; intelligence declined at age 18 years; EM showed granular osmiophillic deposits; deficient palmitoyl-protein thioesterase 1 activity; donor subject is a compound heterozygote: one allele has an A>T transversion at nucleotide 364 in exon 4 of the PPT1 gene [364A>T] resulting in a substitution of tryptophan for arginine at codon 122 [Arg122Trp (R122W)] and a second allele has a G>A transition at nucleotide 125 in exon 2 of the PPT1 gene [125G>A] resulting in a substitution of glutamic acid for glycine at codon 42 [Gly42Glu (G42E)].
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: PPT1
Disease疾病類型:
Mutations突變: ARG122TRP GLY42GLU
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
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