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GM28930 iPSC from Fibroblast

Description:

ISOGENIC CONTROL
VICI SYNDROME; VICIS
ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5, C. ELEGANS, HOMOLOG OF; EPG5

Affected:

Yes

Sex:

Male

Age:

8 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Gene-Edited hiPSC
Heritable Diseases
PIGI Consented Sample
Protocols Protocol PDF
Biopsy Source Skin
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 Ashkenazi Jewish
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
ISCN 46,XY[20]
Species Homo sapiens
Common Name Human
Remarks This line is the isogenic control for the patient-derived line GM27291; parental fibroblast GM26636. The donor is clinically affected; symptom onset began at 3 months; mother noted decreased movement towards end of pregnancy; mother was on enoxaparin during pregnancy; at 3 months of age, MRI showed multiple lesions including pontocerebellar hyperplasia, asgenesis of corpus callosum, and decreased myelination, failure to thrive; facial dysmorphism; symptoms include seizures, brain abnormalities including agenesis of the corpus callosum, cataracts, optic atrophy, chronic lung disease, mild hypertrophic cardiomyopathy, severe myopathy/hypotonia, GI dysmotility with G-tube, multiple pneumonias, urosepsis, obstructive sleep apnea, unable to follow verbal commands (this milestone has since been achieved); normal karyotype, WES GeneDx; genetic testing revealed a homozygous recessive mutation in the EPG5 gene: c.1007A>G (p.Q336R); treatments: G-tube, Nissan fundoplication, physical therapy, speech therapy, occupational therapy; assisted devices: wheelchair, orthotics, communication/learning device; no family history of the disease; parents are non-consanguineous; PubMed ID# 26917586, 27343256, 27343258; same subject as GM26249 (lymph), GM26636 (fibroblast) and GM27291 (iPSC); unaffected carrier mother is GM26251 (Lymph); unaffected carrier father is GM26250 (Lymph) and GM27894 (fibro); unaffected sister is GM27895 (fibro). 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. This line was gene-edited using CRISPR/Cas9 technology using a LULL agreement with The Broad Institute.

Characterizations

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Passage Frozen 31
 
Induced Pluripotent Stem Cell After mutation correction with CRISPR/Cas9 the cell line 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.
 

Phenotypic Data

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Remarks This line is the isogenic control for the patient-derived line GM27291; parental fibroblast GM26636. The donor is clinically affected; symptom onset began at 3 months; mother noted decreased movement towards end of pregnancy; mother was on enoxaparin during pregnancy; at 3 months of age, MRI showed multiple lesions including pontocerebellar hyperplasia, asgenesis of corpus callosum, and decreased myelination, failure to thrive; facial dysmorphism; symptoms include seizures, brain abnormalities including agenesis of the corpus callosum, cataracts, optic atrophy, chronic lung disease, mild hypertrophic cardiomyopathy, severe myopathy/hypotonia, GI dysmotility with G-tube, multiple pneumonias, urosepsis, obstructive sleep apnea, unable to follow verbal commands (this milestone has since been achieved); normal karyotype, WES GeneDx; genetic testing revealed a homozygous recessive mutation in the EPG5 gene: c.1007A>G (p.Q336R); treatments: G-tube, Nissan fundoplication, physical therapy, speech therapy, occupational therapy; assisted devices: wheelchair, orthotics, communication/learning device; no family history of the disease; parents are non-consanguineous; PubMed ID# 26917586, 27343256, 27343258; same subject as GM26249 (lymph), GM26636 (fibroblast) and GM27291 (iPSC); unaffected carrier mother is GM26251 (Lymph); unaffected carrier father is GM26250 (Lymph) and GM27894 (fibro); unaffected sister is GM27895 (fibro). 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. This line was gene-edited using CRISPR/Cas9 technology using a LULL agreement with The Broad Institute.

External Links

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Gene Cards EPG5
NCBI GTR 242840 VICI SYNDROME; VICIS
615068 ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5 HOMOLOG; EPG5
OMIM 242840 VICI SYNDROME; VICIS
615068 ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5 HOMOLOG; EPG5

Culture Protocols

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Passage Frozen 31
Split Ratio 1:7
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium mTeSR1
Serum 0% none
Substrate Matrigel
Supplement -
Pricing
Commercial/For-profit:
$1,789.00USD
Academic/Non-profit/Government:
$1,110.00USD
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How to Order
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Related Products
Same Subject
  • NA26249 - DNA
  • GM26636 - Fibroblast
  • GM27291 - Stem cell
Same Family
  • 3361
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