GM28214 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® GM28214 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; affected child is GM27448 (fibro) and GM27857 (stem cell); whole genome sequencing of the child revealed an X-linked hemizygous mutation in SLC6A8 CHRX:152959835-152960127, novel variant for which this father is negative; carrier of a pathogenic heterozygous variant in exon 3 of the CFTR gene (NM_000492): c.223C>T (p.R75X), rs121908749; the following are variants of uncertain significance (VUS) in the child for which the father is heterozygous: C3ORF20 Chr3:14798910 novel variant; GNL2 Chr1:38038959 novel variant; KRBA1 Chr7:149421739, rs376784656; SSPO Chr7:149513111, rs200844215; TAF5 Chr10:105139477, rs1424510902; ZNF746 Chr7:149171484.
Category分类：Fibroblast
ID编号:NTCC®-GM28214
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: Asian
Age年龄:41 YR
Gender性别:Male
Cell Type细胞类型: CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
Affected State:No
Product:Fibroblast
Gene:CFTR
Mutations突变:ARG75TER
Ethnicity:South Asian, Indian
Family:3486
Relationship:father
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:

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