GM00559A 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® GM00559 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：Ashkenazi; clinically unaffected; positive family history; about 20% of normal sphingomyelinase activity and increased cholesterol biosynthesis in fibroblasts; parent of a child with type A; proband not in Repository; donor subject is heterozygous for a deletion of a single cytosine in exon 2 at codon 330 [990delC (which normally encodes a proline residue)] resulting in a frameshift leading to the formation of a premature stop (TGA) at codon 382 (1-BP DEL, Pro330FS) of the SMPD1 gene.
Category分类：Fibroblast
ID编号:NTCC®-GM00559
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:25 YR
Gender性别:Female
Cell Type细胞类型: NIEMANN-PICK DISEASE, TYPE A | SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
Affected State:No
Product:Fibroblast
Gene:SMPD1
Mutations突变:1-BP DEL, PRO330FS
Ethnicity:JEWISH
Family:
Relationship:parent
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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:

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