GM25952精神发育迟滞，X-LINKED 102； MRX102 | DEAD/H BOX 3，X-LINKED； DDX3X 皮肤，皮肤成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25952 MENTAL RETARDATION, X-LINKED 102; MRX102 | DEAD/H BOX 3, X-LINKED; DDX3X Skin, Skin Cell Line
精神发育迟滞，X-LINKED 102； MRX102 | DEAD/H BOX 3，X-LINKED； DDX3X细胞株
Description描述：Clinically affected; symptom onset at 6 months; diagnosed at age 9 years; breech presentation, labor induced at 37.5 weeks; birth measurements: weight 3.04 kg, length 51 cm, occipitofrontal circumference 34.5 cm; admitted 4 days for spontaneous pneumothorax; extreme irritability noted in first six months of life; recurrent middle ear effusion-otitis (12 ear infections reported between ages 2 and 3); hypotonia; rolled at 6 months; sat up at 12 months; crawled at 12 months; stood/cruised at 14 months; walked alone at 18 months; global developmental delay; delayed receptive and expressive language; moderate intellectual disability; first words 18 months; 3-4 word sentences by 34 months; by age 36 months naming colors 60% correct, animal sounds, and counting; estimated mental age/DQ of 0.6 (functioning at the level of a 5-6 year old at age 9); can perform some complex tasks and has islands of comprehension and expressive language; strong social attachments, reciprocal and some imaginative play; normal pointing; good adaptive function; attention deficit disorder; brain MRI detected prominence of temporal horns L>R; whole exome sequencing revealed subject is heterozygous for de novo Q417P (CAG>CCG): c.1250 A>C variant in exon 12 of the DDX3X gene; karyotype and Signature Genomics 3.0 BAC array were normal; surgery: myringotomy tubes; medications/supplements: Methylphenidate Hydrochloride (Concerta), Levothyroxine Sodium (Levo-T), probiotic; subject锟絪 parents and three siblings do not harbor the Q417P variant in the DDX3X gene; unaffected mother is GM25953; subject is "Individual 30" in the publication by Snijders Blok, et al (PMID 26235985).
Category分类：Fibroblast
ID编号:NTCC®-GM25952
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:10 YR
Gender性别:Female
Cell Type细胞类型: MENTAL RETARDATION, X-LINKED 102; MRX102 | DEAD/H BOX 3, X-LINKED; DDX3X
Affected State:Yes
Product:Fibroblast
Gene:DDX3X
Mutations突变:c.1250 A>C
Ethnicity:
Family:3325
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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