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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
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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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 1
Family History N
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

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Passage Frozen 17
 
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

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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 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

External Links

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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

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Passage Frozen 17
Split Ratio 1:8
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium mTeSR1
Serum none
Substrate Matrigel
Supplement -
Pricing
International/Commercial/For-profit:
$1,789.00USD
U.S. Academic/Non-profit/Government:
$1,110.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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  • GM28396 - B-Lymphocyte
Same Family
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Miscellaneous
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