GM28213 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM28213 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 Skin, Skin Cell Line
脑肌酸缺乏综合症 1； CCD1细胞株
Description描述：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
Category分类：Fibroblast
ID编号:NTCC®-GM28213
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:35 YR
Gender性别:Female
Cell Type细胞类型: CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
Affected State:No
Product:Fibroblast
Gene:SLC6A8
Mutations突变:DEL EX10-11
Ethnicity:Romanian
Family:3486
Relationship:mother
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net