GM27957

GM27957 iPSC from Fibroblast

Description:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
SYNAPTIC RAS-GTPASE-ACTIVATING PROTEIN 1; SYNGAP1

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Protocols

Protocol PDF

Cell Type

Stem cell

Cell Subtype

Induced pluripotent stem cell

Transformant

Reprogrammed (Sendai)

Sample Source

iPSC from Fibroblast

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Norwegian, Irish, English, Scottish

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XX[20]

Species

Homo sapiens

Common Name

Human

Remarks

See Phenotypic Data tab. Same subject as GM27901 (Lymph). 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

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

SYNGAP1

Chromosomal Location

6p21.32

Allelic Variant 1

p.R1240X; MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5

Identified Mutation

c.3718C>T (p.R1240X)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

3 YR

Sex

Female

Age of Onset(If not a control)

8 MO

Age at Diagnosis(If not a control)

3 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 TRIO SEQUENCING REVEALED A DE NOVO MUTATION IN THE SYNGAP1 GENE (NM_006772.2): C.3718 C>T IN EXON 17 (P.R1240X); CHR6:33,414,461-33,459,293 44,833 BP; GRCH38/HG 38

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

8 MONTHS

Age at Diagnosis:

3 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Strabismus

Additional Information:

STRABISMUS IN BOTH EYES CORRECTED THROUGH SURGERY

Neurological Symptoms

Seizures

Additional Information:

LOW MUSCLE TONE; SUBCLINICAL AND MYOCLONIC SEIZURES; STEREOTYPY

Optical and Audiological Symptoms

Additional Information:

EAR TUBES

Musculoskeletal Symptoms

Developmental Milestones

Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills

Additional Information:

APRAXIA; TROUBLE SPEAKING

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information:

INTELLECTUAL DISABILITY

Additional Information

Testing Performed

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy

Medications

KEPPRA

Family History

BOTH PARENTS (NOT IN REPOSITORY) ARE NEGATIVE FOR THE PATHOGENIC VARIANT IN SYNGAP1; THE POSSIBILITY OF GERMLINE MOSAICISM SHOULD BE CONSIDERED.

Remarks

External Links

Gene Cards

SYNGAP1

Gene Ontology

GO:0005096 GTPase activator activity

NCBI Gene

Gene ID:8831

NCBI GTR

603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1

612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5

OMIM

603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1

612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5

Culture Protocols

Split Ratio

1:8

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent

Serum

20% Knock-out Serum Replacement Not inactivated

Substrate

Gelatin + Feeder Layer

Supplement

Basic Fibroblast Growth Factor 10 ng/ml

Pricing

Commercial/For-profit:

$1,789.00USD

Academic/Non-profit/Government:

$1,110.00USD

Description:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 SYNAPTIC RAS-GTPASE-ACTIVATING PROTEIN 1; SYNGAP1

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
SYNAPTIC RAS-GTPASE-ACTIVATING PROTEIN 1; SYNGAP1