Name細胞名稱：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，酸性溶酶體；開關電源1細胞株
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分類：Fibroblast
ID編號:NTCC?-GM00559
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:25 YR
Gender性別:Female
Cell Type細胞類型: NIEMANN-PICK DISEASE, TYPE A | SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
Affected State:No
Product:Fibroblast
Gene:SMPD1
Mutations突變:1-BP DEL, PRO330FS
Ethnicity:JEWISH
Family:
Relationship:parent
Karyotype:
Tissue Type組織來源:
Complete Growth Medium完全培養基: BioVector? Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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