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GM28936 iPSC from Blood

Description:

CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
GUANIDINOACETATE METHYLTRANSFERASE; GAMT

Affected:

Yes

Sex:

Female

Age:

18 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
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
ISCN 46,XX[20]
Species Homo sapiens
Common Name Human
Remarks Reprogrammed from parental line GM28756 (PBMC). 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 GAMT
Chromosomal Location 19p13.3
Allelic Variant 1 p.V78E; CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
Identified Mutation c.233T>A
 
Gene GAMT
Chromosomal Location 19p13.3
Allelic Variant 1 R105GfsX26; CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
Identified Mutation c.299_c.311 dup13

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 18 YR
Sex Female
Racial Category White
Country USA
 
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
  (Baseline)
Mutation Information
Gene, variant, consequence, and exon number:  GAMT, C.299_C.311DUP13 (P.R105G1AX2B), EXON 2
Zygosity:  Compound Heterozygous
Other variants:  GAMT, C.233T>A (P. V78E), EXON 2
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  1 YEAR
Age at Diagnosis:  5 YEARS
In Utero History Information
Birth History Information
Dysmorphic Features
Neurological Symptoms
Seizures
Additional Information:  SEIZURES BEGAN AGE 5 WITH ABSENCE EPILEPSY AND GENERALIZED TONIC-CLONIC EPISODES BEGINNING AT AGE 10.
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Developmental Milestones
Delayed speech and language development
Global developmental delay
Additional Information:  ACADEMIC DELAYS
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Behavioral problems
Learning disability
Intellectual Disability:  Moderate
Additional Information:  CLINICALLY PROBLEMS WITH INHIBITION, EMOTIONAL CONTROL, PLANNING/ORGANIZATION, SELF-MONITORING, ATYPICALITY, WITHDRAWAL, AND FUNCTIONAL COMMUNICATIONS. DEFICITS IN ADAPTIVE FUNCTIONING AND DAILY FUNCTIONING SKILLS; POSITIVE EMOTIONAL AND BEHAVIORAL ADJUSTMENT.
Additional Information
Uncategorized Symptoms:  EUTHYMIC MOOD AND ALERT; SIGNIFICANT COGNITIVE SLOWING; LIMITED RECEPTIVE AND EXPRESSIVE LANGUAGE SKILLS WITH LIMITED VOCABULARY DEVELOPMENT; ARTICULATE AND INTELLIGIBLE SPEECH.
Testing Performed
Cognitive and Behavioral Testing:  WECHSLER INTELLIGENCE SCALE FOR CHILDREN; BEHAVIOR ASSESSMENT SYSTEM FOR CHILDREN; BEHAVIOR RATING INVENTORY OF EXECUTIVE FUNCTION (BRIEF). VERBAL COMPREHENSION (45) EXTREMELY LOW; VISUAL SPATIAL (45) EXTREMELY LOW; FLUID REASONING (61) EXTREMELY LOW; WORKING MEMORY (59) EXTREMELY LOW; PROCESSING SPEED (56) EXTREMELY LOW.
Treatments and Assistive Devices
Speech therapy
Communication or learning devices
Surgeries  LITHOTRIPSY, VAGAL NERVE STIMULATION, TOTAL SHOULDER ARTHROPASTY.
Medications
 LAMICTAL, ONFI.
Family History
 YOUNGER BROTHER IS CURRENTLY ASYMPTOMATIC DUE TO EARLY DIAGNOSIS AND TREATMENT.
Remarks Reprogrammed from parental line GM28756 (PBMC). 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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Gene Cards GAMT
Gene Ontology GO:0006601 creatine biosynthesis
GO:0006936 muscle contraction
GO:0008168 methyltransferase activity
GO:0016740 transferase activity
GO:0030731 guanidinoacetate N-methyltransferase activity
NCBI Gene Gene ID:2593
NCBI GTR 601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT
612736 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
OMIM 601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT
612736 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2

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
Substrate Matrigel
Supplement -
Pricing
International/Commercial/For-profit:
$1,789.00USD
U.S. Academic/Non-profit/Government:
$1,110.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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Miscellaneous
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