NTCC® NA05788 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA05788

Name：NTCC® NA05788 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05788
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 1 YR
Gender性别: Female
Description描述: SMITH-LEMLI-OPITZ SYNDROME; SLOS | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
Remarks: 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)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: DHCR7
Disease疾病类型:
Mutations突变: GLY138VAL HIS405TYR
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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