GM28888

GM28888 iPSC from Blood

Description:

INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
TRANSPORTIN 2; TNPO2

Affected:

Yes

Sex:

Male

Age:

5 MO (At Sampling)

Overview

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

More than one race

Ethnicity

Not Hispanic/Latino

Ethnicity

White/Asian; Chinese and European

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XY[20]

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected. 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

Passage Frozen

Induced Pluripotent Stem Cell

The frozen cell line submitted to the Repository was recovered 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

TNPO2

Chromosomal Location

19p13.13

Allelic Variant 1

P.ASP156ASN; INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA

Identified Mutation

c.466G>A

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

5 MO

Sex

Male

Age at Diagnosis(If not a control)

5 MO

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

More than one race

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

MISSENSE VARIANT IN TNPO2 GENE, C.466G>A (P.ASP156ASN)

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

33 WKS GESTATION

Age at Diagnosis:

4.5 MONTHS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Additional Information:

EPILEPSY

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay

Additional Information:

DEVELOPMENTAL REGRESSIONS

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Uncategorized Symptoms:

FAILURE TO THRIVE

Testing Performed

Neurological Testing:

EEG, MRI

Treatments and Assistive Devices

Occupational therapy
Physical therapy

Medications

Family History

Remarks

External Links

NCBI GTR

619556 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA IMPAIRED SPEECH AND DYSMORPHIC FACIES; IDDHISD

OMIM

619556 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA IMPAIRED SPEECH AND DYSMORPHIC FACIES; IDDHISD

Culture Protocols

Passage Frozen

Split Ratio

1:6

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

mTeSR1

Serum

none

Substrate

Matrigel

Supplement

Pricing

Commercial/For-profit:

$1,789.00USD

Academic/Non-profit/Government:

$1,110.00USD

Description:

INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD TRANSPORTIN 2; TNPO2

Affected:

Yes

Sex:

Male

Age:

5 MO (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
TRANSPORTIN 2; TNPO2