GM25974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® GM25974 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; diagnosed at age 7 years by a geneticist; onset of symptoms at age 7 months; global developmental delay; metopic craniosynostosis;microcephaly; mildly dysmorphic facial features (narrow face, appearance similar to Pierre-Robin); ophthalmology findings: hypotelorism; right optic nerve head mild dysplasia,in both eyes: crowded optic nerves, esotropia; hyperopia, astigmatism, inferior oblique overreaction secondary to craniosynostosis, short thumbs; diffuse hypermobility in the upper and lower limbs; chest asymmetry; mild left thoracic vertex scoliosis; pelvic obliquity consistent with leg-length discrepancy (right leg is 61 cm, left leg is 59.5cm); hyperlordosis when standing; internal rotation of the hips with in-toeing; genu recurvatum; genu valgus R>L; pes planovalgus R>L; toes are upgoing; varus deformation; significant negative middle ear pressure bilaterally suggesting bilateral Eustachian tube dysfunction; Vineland Adaptive Behavioral Scale Assessment at age 6: significantly impaired skills in all areas,behavior similar to a child 1 to 19 months; communication similar to 1-4 mo old and limited to making non-word baby/babble sounds and understanding the word 锟絥o锟?, daily living skills similar to 14 mo old (can remove some clothing, drink from straw); social skills similar to 3-13 months (looks for parents/familiar people, plays near other children, engages in parallel play, responds well to occasional routine changes); her motor skills are similar to a child 15 to 19 months of age (can walk up/down steps, turn book pages, do simple puzzles); Mullen Scales of Early Learning scores (Age 6): visual reception:20 months, fine motor: 20 months, receptive language 14 months, expressive language:9 months; exhibits many purposeless self-stimulatory movements; hyperactivity; sleep disturbances; brain MRI/MRS: thin posterior corpus callosum, small ventral pons, abnormal gyral pattern-cerebral cortex shows a deep collateral sulcus with R>L deep parahippocampal gyri and a R hippocampus slightly under rotated, slight under myelination for age, slight choline elevation in left centrum semiovale and slight deficit N-acetylaspartate in superior cerebellar vermis; electromyogram result: nerve conduction velocity that tended to be slower than expected for age; whole exome sequencing revealed a heterozygous mutation in exon 13 of the DDX3X gene c.1383dupA (p.Tyr462IlefsX3) - this variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay; assistive devices: ankle foot orthotics; management: speech language therapy; unaffected parents are: mother GM25975 (fibroblast) and father GM25976 (fibroblast); refer to Individual 22 in publication by Blok et al (PMID: 26235985).
Category分类：Fibroblast
ID编号:NTCC®-GM25974
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:7 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.1383dupA (p.Tyr462IlefsX3)
Ethnicity:European
Family:3309
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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