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GM28937 iPSC from Blood

Description:

CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8

Affected:

Yes

Sex:

Male

Age:

4 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
Ethnicity Not Hispanic/Latino
Ethnicity Irish, English, Spanish, French, Italian, Mexican
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. Same donor as GM27863 (Lymph) and GM27874 (fibro); see Family Number 3466. 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 SLC6A8
Chromosomal Location Xq28
Allelic Variant 1 300036..0003; CEREBRAL CREATINE DEFICIENCY SYNDROME 1
Identified Mutation c.1222_1224DELTTC (p.F408del); Bizzi et al. (2002) reported a child with creatine deficiency (300352) who had severe neurologic disturbances including seizures, behavioral problems, speech delay, and inability to engage in structured play. Proton magnetic resonance spectroscopic imaging showed absence of creatine in the whole brain, which was not corrected by creatine supplementation. Analysis of the SLC6A8 gene showed a hemizygous 3-bp deletion in exon 8, 1221delTTC, resulting in the deletion of a single phenylalanine at residue 408 in a conserved region of the protein. The patient's mother was heterozygous for the mutation.

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 4 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:  WHOLE EXOME SEQUENCING REVEALED DE NOVO PATHOGENIC VARIANT IN SLC6A8, C.1222_1224DELTTC (P.F408DEL) IN EXON 8
Zygosity:  Hemizygous
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  6 MONTHS
Age at Diagnosis:  1 YEAR
In Utero History Information
Birth History Information
Dysmorphic Features
Neurological Symptoms
Hypotonia
Seizures
Sleep abnormalities
Additional Information:  RARE MULTIFOCAL EPILEPTIFORM DISCHARGES AND DIFFUSE ENCEPHALOPATHY FOUND BY EEG; PARTIAL SYMPTOMATIC EPILEPSY
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed gross motor skills
Gastrointestinal Symptoms
Constipation
Eating difficulties
Genitourinary Symptoms
Additional Information:  LEFT ORCHIECTOMY FOR TESTICULAR REMNANT
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Behavioral problems
Autism spectrum disorder
Sleep disturbances
Intellectual Disability:  Mild
Additional Information
Uncategorized Symptoms:  LEFT ORCHIECTOMY FOR TESTICULAR REMNANT
Testing Performed
Neurological Testing:  EEG
Cognitive and Behavioral Testing:  ADOS; BSID-III, CGCL; VABS-3; SCQ
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Medications
 LEVETIRACETAM (KEPPRA); CREATINE GLUCONATE; ARGININE BASE POWDER; LORAZEPAM (ATIVAN)
Family History
 HEARING PROBLEMS; LEARNING PROBLEMS; MILD DEPRESSION AND ANXIETY

External Links

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Gene Cards SLC6A8
Gene Ontology GO:0001504 neurotransmitter uptake
GO:0005309 creatine:sodium symporter activity
GO:0005328 neurotransmitter:sodium symporter activity
GO:0005887 integral to plasma membrane
GO:0006836 neurotransmitter transport
GO:0006936 muscle contraction
GO:0015293 symporter activity
NCBI Gene Gene ID:6535
NCBI GTR 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8
300352 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
OMIM 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8
300352 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

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
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • GM27863 - B-Lymphocyte
Same Family
  • 3466
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