Name：NTCC? NA16193 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA16193
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡:
Gender性別: Male
Description描述: NIEMANN-PICK DISEASE, TYPE B | SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1 | GLUCOSIDASE, ACID BETA; GBA
Remarks: Clinically affected; organomegaly; lung involvement; neurologically normal; Type B; acid sphingomyelinase enzyme levels < 2% of control; the donor subject is a compound heterozygote; one allele carries a G-to-T change at nucleotide 1487 (in a CpG dinucleotide) of the SPMD1 gene which results in an arginine-to-leucine amino acid substitution in residue 496 [Arg496Leu (R496L)]; the second allele carries a 3-base deletion of nucleotides 1821-1823 which removes an arginine residue from position 608 (Arg608DEL); donor subject is also heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG]
Alternate IDs其他編號:
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: GBA SMPD1
Disease疾病類型:
Mutations突變: ARG496LEU ARG608DEL ASN370SER
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
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