Name細胞名稱：NTCC? GM10640 SJOGREN-LARSSON SYNDROME | ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2 Cell Line
干燥綜合征 |醛脫氫酶，家族 3，亞家族 A，成員 2；乙醛脫氫酶3A2細胞株
Description描述：Congenital ichthyosis; mental retardation; spastic diplegia; fibroblasts have 7% of control fatty alcohol:NAD+ oxidoreductase activity using octadecanol as the substrate; similarly affected sister; donor subject is a compound heterozygote: allele 1 has a 2 bp deletion at nucleotide 1297 of the ALDH3A2 gene (1297_1298delGA) with consequent premature termination at amino acid 434 and allele 2 has a 5 bp insertion at nucleotide 1311 (1311_1312insACAAA) resulting in frameshift and premature termination at amino acid 457.
Category分類：Fibroblast
ID編號:NTCC?-GM10640
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:
Gender性別:Female
Cell Type細胞類型: SJOGREN-LARSSON SYNDROME | ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2
Affected State:Yes
Product:Fibroblast
Gene:ALDH3A2
Mutations突變:2-BP DEL, 1297GA 5-BP INS, NT 1311
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:
Complete Growth Medium完全培養基: BioVector? Dulbecco Modified Eagles Medium (high glucose) 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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