GM05788 SMITH-LEMLI-OPITZ SYNDROME; SLOS | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM05788 SMITH-LEMLI-OPITZ SYNDROME; SLOS | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7 Cell Line
史密斯-莱姆利-奥皮兹综合征； SLOS | 7-@脱氢胆固醇还原酶； DHCR7细胞株
Description描述：46,XX in leukocytes; failure to thrive, developmental delay, hypotonia, microcephaly, micrognathia, simian creases, and partial syndactyly; negative family history; see GM05789 Lymphoid; donor subject is a compound heterozygote: one allele has a G>T transversion at nucleotide 413 of the DHCR7 gene (c.413G>T) resulting in the substitution of valine for glycine at codon 138 [Gly138Val (G138V)] and the second allele has a C>T transition at nucleotide 1213 (c.1213C>T) resulting in the substitution of tyrosine for histidine at codon 405 [His405Tyr (H405Y)]
Category分类：Fibroblast
ID编号:NTCC®-GM05788
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: White
Age年龄:1 YR
Gender性别:Female
Cell Type细胞类型: SMITH-LEMLI-OPITZ SYNDROME; SLOS | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
Affected State:Yes
Product:Fibroblast
Gene:DHCR7
Mutations突变:GLY138VAL HIS405TYR
Ethnicity:
Family:2965
Relationship:proband
Karyotype:
Tissue Type组织来源:
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net