Name細(xì)胞名稱：NTCC? GM17473 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS Cell Line
?；o酶A脫氫酶，短鏈，缺乏 |酰基輔酶A脫氫酶，短鏈；計(jì)算機(jī)輔助設(shè)計(jì)系統(tǒng)細(xì)胞株
Description描述：Clinically affected; mother had acute fatty liver of pregnancy; failure to thrive; mild developmental delay; mitochondrial extracts from muscle and fibroblasts were deficient of small-chain Acyl-CoA dehydrogenase activity; mild elevation of butyrylcarnitine by plasma acylcarnitine analysis; mild ethylmalonic aciduria (23 mmol/mol creatinine, control <18 mmol/mol) by urine organic acid analysis; molecular genetic analysis failed to identify the common 1528G>C mutation in the TFP gene; donor subject is homozygous for a G>A transition at nucleotide 625 of the ACADS gene [625G>A] resulting in a substitution of serine for glycine at codon 185 [Gly185Ser (G185S)].
Category分類：Fibroblast
ID編號(hào):NTCC?-GM17473
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race: White
Age年齡:
Gender性別:Male
Cell Type細(xì)胞類型: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
Affected State:Yes
Product:Fibroblast
Gene:ACADS
Mutations突變:GLY185SER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養(yǎng)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(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
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
http://www.biovector.net