GM26614先天性去糖基化障碍； CDDG | N-聚糖酶1； NGLY1 皮肤、手臂成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26614 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1 Skin, Arm Cell Line
先天性去糖基化障碍； CDDG | N-聚糖酶1； NGLY1细胞株
Description描述：Unaffected carrier mother of affected child (GM26611 B-lymphocyte; GM26612 fibroblast); history of speech delay until age 3; Chrohn's disease; genetic testing revealed heterozygous mutation c.1201A>T (p.Arg401X) in the NGLY1 gene; half-brother has ADHD, speech/sensory integration problems, delayed speech, a stutter, and decreased reflexes in lower extremities; mother has lung fibrosis, CREST syndrome, and Raynaud's disease; grandfather with epilepsy but without intellectual disability; see GM26613 for B-lymphocyte.
Category分类：Fibroblast
ID编号:NTCC®-GM26614
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:48 YR
Gender性别:Female
Cell Type细胞类型: CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1
Affected State:No
Product:Fibroblast
Gene:NGLY1
Mutations突变:ARG401TER
Ethnicity:British/English
Family:3377
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
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