GM28930
iPSC from Fibroblast
Description:
ISOGENIC CONTROL
VICI SYNDROME; VICIS
ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5, C. ELEGANS, HOMOLOG OF; EPG5
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Gene-Edited hiPSC
Heritable Diseases
PIGI Consented Sample |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Sendai)
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Sample Source
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iPSC from Fibroblast
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Ashkenazi Jewish
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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ISCN
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46,XY[20]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
31 |
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| 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. |
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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. |
| Passage Frozen |
31 |
| Split Ratio |
1:7 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
0% none |
| Substrate |
Matrigel |
| Supplement |
- |
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