NTCC® NA28213 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA28213

Name：NTCC® NA28213 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA28213
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: 35 YR
Gender性别: Female
Description描述: CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
Remarks: Unaffected carrier; affected child is GM27448 (fibro) and GM27857 (stem cell); whole genome sequencing (WES) revealed an X-linked hemizygous mutation in SLC6A8 ChrX:152959835-152960127 novel variant in child and for which mother is likely mosaic; the following are variants of uncertain significance (VUS) in the child for which the mother is heterozygous: C3ORF20 Chr3:14768516, rs13939744; GNL2 Chr1:38034840, rs371807683; KRBA1 Chr7:149419915; SSPO Chr7:149528253, rs202079585; TAF5 Chr10:105139477, rs1424510902
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: SLC6A8
Disease疾病类型:
Mutations突变: DEL EX10-11
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