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GM29277 iPSC from Blood

Description:

CHROMOSOME XP11.3 DELETION SYNDROME
MONOAMINE OXIDASE A; MAOA
MONOAMINE OXIDASE B; MAOB

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Protocols Protocol PDF
Biopsy Source Blood
Cell Type Stem cell
Cell Subtype Induced pluripotent stem cell
Transformant Reprogrammed (Sendai)
Sample Source iPSC from Blood
Race White
Subject Type parent/child
Ethnicity Not Hispanic/Latino
Ethnicity Ashkenazi Jewish, Italian, and British
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
ISCN 46,XY[20]
Species Homo sapiens
Common Name Human
Remarks See "Phenotypic Data" tab. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune

Characterizations

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Passage Frozen 13
 
Induced Pluripotent Stem Cell The parental cell line was recovered reprogrammed to an induced pluripotent stem cell line and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis.
 
Gene MAOA
Chromosomal Location Xp11.3
Allelic Variant 1 deletion; BRUNNER SYNDROME; BRNRS
Identified Mutation COMPLETE DELETION; MONOAMINE OXIDASE A DEFICIENCY
 
Gene MAOB
Chromosomal Location Xp11.3
Allelic Variant 1 deletion; CHROMOSOME Xp11.3 DELETION SYNDROME
Identified Mutation COMPLETE DELETION
 
Gene PMP22
Chromosomal Location 17p11.2
Allelic Variant 1 deletion; NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES
Identified Mutation COMPLETE DELETION

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 3 YR
Sex Male
Age of Onset(If not a control) 6 MO
Age at Diagnosis(If not a control) 1 YR
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category White
Country USA
 
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
  (Baseline)
Mutation Information
Gene, variant, consequence, and exon number:  COMPLETE DELETION OF MAOA, MAOB AND PINCR GENES (XP11.3 DELETION)
Zygosity:  Hemizygous
Other variants:  PATHOGENIC DELETION OF 17P12 REGION
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  6 MONTHS
Age at Diagnosis:  1 YEAR
In Utero History Information
Additional Information:  NO PREGNANCY COMPLICATIONS REPORTED
Birth History Information
Dysmorphic Features
Microcephaly
Neurological Symptoms
Hypotonia
Structural brain anomaly
Additional Information:  LEFT TEMPORAL CORTICAL DYSPLASIA AND MILDLY HYPOPLASTIC BRAINSTEM
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
Abnormal weight for age
Gastrointestinal Symptoms
Constipation
Additional Information:  ABDOMINAL PAIN AND DISTENTION
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Autism spectrum disorder
Additional Information
Testing Performed
Neurological Testing:  EEG-NORMAL; MRI-LEFT TEMPORAL CORTICAL DYSPLASIA
Uncategorized Testing:  MOLECULAR GENETIC TESTING - CHROMOSOMAL MICRO ARRAY
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Medications
 CYPROHEPTADINE
Family History
Remarks See "Phenotypic Data" tab. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune

External Links

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NCBI GTR 300578 CHROMOSOME Xp11.3 DELETION SYNDROME
OMIM 300578 CHROMOSOME Xp11.3 DELETION SYNDROME

Culture Protocols

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Passage Frozen 13
Split Ratio 1:6
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium mTeSR1
Serum none Not inactivated
Substrate Matrigel
Supplement -
Pricing
International/Commercial/For-profit:
$1,789.00USD
U.S. Academic/Non-profit/Government:
$1,110.00USD
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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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