GM03252A 型尼曼匹克病 |鞘磷脂磷酸二酯酶 1，酸性溶酶体； SMPD1成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM03252 NIEMANN-PICK DISEASE, TYPE A | SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1 Cell Line
A 型尼曼匹克病 |鞘磷脂磷酸二酯酶 1，酸性溶酶体；开关电源1细胞株
Description描述：2% of normal sphingomyelinase activity and deficient phospholipase C activity in fibroblasts; similarly affected brother; type B; donor is a compound heterozygote: one allele with a T>C transition at nucleotide 905 in exon 2 of the SMPD1 gene [905T>C] resulting in a substitution of proline for leucine at codon 302 [Leu302Pro (L302P)]; other allele carries an uncharacterized mutation._x000D_ _x000D_ Submission previously diagnosed as Neimann-Pick Disease, Type B; further genetic testing confirmed Niemann-Pick Disease, Type A mutation._x000D_
Category分类：Fibroblast
ID编号:NTCC®-GM03252
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:21 FW
Gender性别:Female
Cell Type细胞类型: NIEMANN-PICK DISEASE, TYPE A | SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
Affected State:Yes
Product:Fibroblast
Gene:SMPD1
Mutations突变:LEU302PRO
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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
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