GM28756 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | GUANIDINOACETATE METHYLTRANSFERASE; GAMT B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM28756 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | GUANIDINOACETATE METHYLTRANSFERASE; GAMT B-Lymphocyte Cell Line
脑肌酸缺乏综合症 2； CCD2 |胍基乙酸甲基转移酶； GAMT细胞株
Description描述：Clinically affected. Substantial developmental delay, moderate intellectual disability, and mild epilepsy. Patient 2 of Viau 2013 (PMID: 24071436). Patient 25 of Stockler-Ipsiroglu (PMID: 24268530). Assessed for developmental disabilities at 3 years of age. Seizures began at 5 years of age. Treatment began at 5 years and 6 months of age for 30 months; improvement on developmental delay, speech delay and behavior, remaining mild epilepsy. Brother GM28757 is currently asymptomatic after early diagnosis and treatment. Mother is GM28759. Father is GM28758. Fibroblast line is GM28379 and iPSC line is GM28936.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM28756
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:18 YR
Gender性别:Female
Cell Type细胞类型: CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | GUANIDINOACETATE METHYLTRANSFERASE; GAMT
Affected State:Yes
Product:LCL
Gene:GAMT
Mutations突变:c.233T>A c.299_c.311 dup13
Ethnicity:U.K.
Family:NIGMS00018
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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
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