GM29325

GM29325 iPSC from Blood

Description:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

Affected:

Yes

Sex:

Male

Age:

12 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

White

Subject Type

trio

Ethnicity

Not Hispanic/Latino

Ethnicity

Italian

Country of Origin

ITALY

Family Member

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; unaffected father GM28630; unaffected Mother GM28631; same subject as GM28396 (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

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

CHAMP1

Chromosomal Location

13q34

Allelic Variant 1

; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40

Identified Mutation

c.1169C>G (p.Trp390Ter)

Gene

GALT

Chromosomal Location

9p13

Allelic Variant 1

606999.0013; GALACTOSEMIA

Identified Mutation

LYS285ASN; In a study of 30 families with classic galactosemia in Denmark, Greber-Platzer et al. (1997) found that the second common galactosemia mutation was lys285gln (K285N), accounting for 28% of GALT gene alleles.

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

12 MO

Sex

Male

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

ITALY

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

CHAMP1, C.1169C>G (P.TRP390TER), NONSENSE (DE NOVO)

Zygosity:

Heterozygous

Other variants:

GALT, C.855G>T (P.LYS285ASN), MISSENSE, HETEROZYGOUS

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

AT BIRTH

Age at Diagnosis:

AT BIRTH

In Utero History Information

Birth History Information

Dysmorphic Features

Microcephaly

Neurological Symptoms

Hypotonia

Additional Information:

MODE

Optical and Audiological Symptoms

Defective vision
Deafness

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay

Additional Information:

PSYCHOMOTOR DELAY

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Treatments and Assistive Devices

Physical therapy

Medications

Family History

GALT VARIANT INHERITED FROM MOTHER

Remarks

External Links

Gene Cards

CHAMP1

GALT

Gene Ontology

GO:0003982 UTP-hexose-1-phosphate uridylyltransferase activity

GO:0006012 galactose metabolism

GO:0008108 UDP-glucose-hexose-1-phosphate uridylyltransferase activity

GO:0016740 transferase activity

NCBI Gene

Gene ID:2592

NCBI GTR

606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

OMIM

606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Culture Protocols

Passage Frozen

Split Ratio

1:8

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:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

Affected:

Yes

Sex:

Male

Age:

12 MO (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT