GM27909

GM27909 Fibroblast from Skin, Skin

Description:

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

Affected:

No Data

Sex:

Male

Age:

10 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Skin

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Skin

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

German

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

See Phenotypic Data tab.

Characterizations

PDL at Freeze

5.4

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

SLC6A8

Chromosomal Location

Xq28

Allelic Variant 1

; CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

Identified Mutation

c.829_843dup15 (p.V277_L281dup)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

10 YR

Sex

Male

Age at Diagnosis(If not a control)

10 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:

HETEROZYGOUS MUTATION IN EXON 5 OF THE SLC6A8 GENE: C.829-843DUP15 (P.V277_L281DUP); 15 NUCLEOTIDE DUPLICATION IS PREDICTED TO RESULT IN AN IN-FRAME DUPLICATION OF 5 AMINO ACIDS

Zygosity:

Heterozygous
Notes: HETEROZYGOUS

Other variants:

HEMIZYGOUS BENIGN VARIANT IN EXON 1 OF SLC6A8 GENE: C.1-5A>G (SNP RS3845730

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

BIRTH

Age at Diagnosis:

10 YEARS

In Utero History Information

Birth History Information

Failure to thrive

Dysmorphic Features

Neurological Symptoms

Ataxia

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Autism spectrum disorder
Aggression

Additional Information:

INTELLECTUAL DISABILITY, NON-VERBAL

Additional Information

Uncategorized Symptoms:

SENSORY ISSUES

Testing Performed

Treatments and Assistive Devices

Communication or learning devices

Medications

Family History

Remarks

See Phenotypic Data tab.

External Links

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

Cumulative PDL at Freeze

5.4

Passage Frozen

Split Ratio

1:8

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

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

Affected:

No Data

Sex:

Male

Age:

10 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

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