Name細胞名稱：NTCC? GM11576 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | HOLOCARBOXYLASE SYNTHETASE; HLCS Amniotic fluid Cell Line
全羧化酶合成酶缺乏癥 |全羧化酶合成酶； HLCS細胞株
Description描述：Amniocytes have <1% of control holocarboxylase synthetase activity; pyruvate carboxylase, propionyl CoA carboxylase, & 3-methylcrotonyl CoA carboxylase enzyme activities were also very low; 2 affected sibs; slow growing culture; donor subject is a compound heterozygote: one allele has a IVS10+5G>A mutation in the HCLS gene and a second allele has a proline for leucine substitution at codon 514 [Leu514Pro (L514P)]
Category分類：Amniotic fluid-derived cell line
ID編號:NTCC?-GM11576
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:16 FW
Gender性別:Female
Cell Type細胞類型: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | HOLOCARBOXYLASE SYNTHETASE; HLCS
Affected State:Yes
Product:Amniotic fluid-derived cell line
Gene:HLCS
Mutations突變:IVS10+5G>A LEU514PRO
Ethnicity:GERMAN
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:
Complete Growth Medium完全培養基: BioVector? Amniotic Fluid Culture Medium 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:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net