GM16393 GLUTARICACIDEMIA I | GLUTARYL-COA DEHYDROGENASE; GCDH Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM16393 GLUTARICACIDEMIA I | GLUTARYL-COA DEHYDROGENASE; GCDH Skin, Unspecified Cell Line
戊二酸血症 I |戊二酰辅酶A脱氢酶； GCDH细胞株
Description描述：Clinically affected; the donor subject is a compound heterozygote; one allele carries a G-to-C transition (CGG>CCG) at nucleotide 716 (c.680) in exon 7 of the GCDH gene which results in a substitution of proline for arginine at codon 227 [ARG227PRO (R227P)]; the second allele carries a G-to-A transition (GTG>ATG) at nucleotide 1234 (c.1198) in exon 10 of the GCDH gene which results in a substitution of methionine for valine at codon 400 [VAL400MET (V400M)].
Category分类：Fibroblast
ID编号:NTCC®-GM16393
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:
Age年龄:9 YR
Gender性别:Female
Cell Type细胞类型: GLUTARICACIDEMIA I | GLUTARYL-COA DEHYDROGENASE; GCDH
Affected State:Yes
Product:Fibroblast
Gene:GCDH
Mutations突变:ARG227PRO VAL400MET
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: 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:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
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