GM27616 RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM27616 RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1 Skin, Skin Cell Line
RETT 综合征，先天性变异 |叉头盒 G1；福克斯G1细胞株
Description描述：Clinically affected; pregnancy normal, but reduced fetal movements compared to older sibling; birth at full term 8lbs 8oz; feeding problems at birth, with slow weight gain until able to pick up food and self feed at 3 yrs; delay in milestones: smiled at 10m; stood at 18m but left-side neglect; walked at 34m; dystonia from 2yrs (improved with dopamine from 16 years); speech: occasional words from 3 yrs, no fluency until improvement when dopamine given for the dystonia - this led to phrases and 锟絘lmost sentences锟? no surgery; seizures: some febrile seizures from 18m: 10 in total, bad spell at 4yrs, last fit at 6 yrs; dystonia; myoclonus; orofacial dyskinesia; distal hand tremor; MRI scans have shown delayed myelination with deficiency of the anterior corpus callosum, cerebellar hypoplasia and frontal underdevelopment; mutation in FOXG1 gene: c.695A>G (p.N232S); sleep problems managed by Clonidine; speech and movement improved with Levodopa; family history: mother had an aneurysmal subarachnoid hemorrhage, paternal grandfather had a subarachnoid hemorrhage; same subject as GM27373 (lymph) and GM27629 (iPSC).
Category分类：Fibroblast
ID编号:NTCC®-GM27616
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:20 YR
Gender性别:Male
Cell Type细胞类型: RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1
Affected State:Yes
Product:Fibroblast
Gene:FOXG1
Mutations突变:c.695A>G (p.N232S)
Ethnicity:British
Family:3433
Relationship:proband
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
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