GM29788

GM29788 Fibroblast

Description:

CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD
SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN

Affected:

Yes

Sex:

Female

Age:

10 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

European

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Same donor as GM29787 (iPSC).

Characterizations

PDL at Freeze

4.14

Passage Frozen

Gene

NALCN

Chromosomal Location

13q32.3-q33.1

Allelic Variant 1

Asp600His; SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN

Identified Mutation

c.1798 G>C (p.Asp600His)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

10 MO

Sex

Female

Age at Diagnosis(If not a control)

6 WK

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

HETEROZYGOUS MUTATION IN THE NALCN GENE, VARIANT C.1798 G>C (P.ASP600HIS), RESULTING IN GAC>CAC ON EXON 15. THE MUTATION HAS BEEN CHARACTERIZED IN NEUROPHYSIOLOGY MODELS OF NALCN, WHICH CONFIRMED GAIN-OF FUNCTION IN THE NALCN ION CHANNEL WHICH ALIGNS WITH THE DIAGNOSIS OF CLIFAHDD.

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

FETAL WEEKS

Age at Diagnosis:

6 WEEKS

In Utero History Information

Birth History Information

Dysmorphic Features

Additional Information:

ULNAR DEVIATION

Neurological Symptoms

Hypotonia

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Club foot

Additional Information:

BILATERAL HIP DYSPLASIA; DISTAL ARTHROGRYPOSIS; HYPERKINETIC MOVEMENTS; ATAXIA

Developmental Milestones

Global developmental delay

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Atrial septal defect

Additional Information:

VENTRICULAR SEPTAL DEFECT

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Respiratory and Cardiovascular Testing:

EEG WITH GENERALIZED SLOWING; NORMAL EKG

Treatments and Assistive Devices

Medications

Family History

Remarks

Same donor as GM29787 (iPSC).

External Links

Gene Cards

NALCN

NCBI GTR

611549 SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN

616266 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

OMIM

611549 SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN

616266 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

Culture Protocols

Passage Frozen

Split Ratio

1:6

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

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD

Description:

CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN

Affected:

Yes

Sex:

Female

Age:

10 MO (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD
SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN