GM27291
iPSC from Fibroblast
Description:
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 |
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[25].arr[hg19]4q12(57,053,403-58,249,858)x3
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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 |
17 |
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| Induced Pluripotent Stem Cell |
The parental cell line was recovered, reprogrammed to an induced pluripotent stem cell line, 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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| Gene |
EPG5 |
| Chromosomal Location |
18q12.3-q21.1 |
| Allelic Variant 1 |
; VICI SYNDROME; VICIS |
| Identified Mutation |
p.Q336R; c.1007A>G |
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| Gene |
EPG5 |
| Chromosomal Location |
18q12.3-q21.1 |
| Allelic Variant 2 |
; VICI SYNDROME; VICIS |
| Identified Mutation |
p.Q336R; c.1007A>G |
| Remarks |
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) and GM26636 (fibroblast); isogenic control line for this iPSC is GM28930; 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. |
| Mitchell MW, Grandizio C, Turan N, Requesens DV, An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c1007A>G (pQ336R) mutation in the EPG5 gene Stem cell research63:102833 2021 |
| PubMed ID: 35700637 |
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| Kane MS, Zhao J, Muskett J, Diplock A, Srivastava S, Hauser N, Deeken JF, Niederhuber JE, Smith WE, Vilboux T, Ebrahimi-Fakhari D, EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 35-Year-Old Patient with Vici Syndrome Neuropediatrics50:257-261 2019 |
| PubMed ID: 31226715 |
| Passage Frozen |
17 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent |
| Serum |
20% Knock-out Serum Replacement Not inactivated |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
Basic Fibroblast Growth Factor 10 ng/ml |
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