GM27860
iPSC from Fibroblast
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
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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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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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French, Italian
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Country of Origin
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FRANCE
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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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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XY[19].arr(1-22)x2,(X,Y)x1
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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 |
16 |
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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 |
CHAMP1 |
| Chromosomal Location |
13q34 |
| Allelic Variant 1 |
616327.0002; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 |
| Identified Mutation |
c.1489C>T (p.Arg497*) |
| Remarks |
Clinically affected; biometric at 5th percentile at 28 weeks gestation; vaginal delivery at 39 weeks, 4 days; issues at birth with sucking and feeding; diagnosed at 23 months by geneticist; symptom onset at 2 months of age by a geneticist; minor dysmorphologic features: thin upper lip; short philtrum; cyanosis with eye contact loss episodes; gaze freezes; microcephaly; divergent strabism; hypertonia; siezures (treated by Keppra then Depakine); friendly behavior, but can bite or pull hair when frustrated; global developmental delay; EEG showed non-epileptiform abnormalities (slow activity, few multifocal slow waves); moderate autism spectrum disorder (ASD); developmental milestones: sat at 12 months, crawled at 14 months, cruised at 18 months, walked at 39 months, first words at 14 months; normal MRI; FISH and aCGH testing; microarray oligonucleotide SNP (GRCh37, hg19) result: arr(1-22)x2,(XY)x1; exome sequencing with confirmation by Sanger revealed a de novo, autosomal dominant, heterozygous mutation in CHAMP1 resulting in a premature stop codon: c.1489C>T (p.Arg497*), NM_032436.2, Chr13 (GRCh37):g.115090806C>T; assistive devices include braces and orthotics; treatment and management include: physical therapy, occupational therapy, psychological therapy, speech language therapy, eye therapy, cognitive therapy (Feuerstein method); medications include: esomeprazole (valproic acid from 4 months to 3 years old), macrogol, melatonin, and amitriptyline, forlax, laroxyl; no family history of disease; same subject as GM27412 (lymph) and GM27353 (fibroblast). 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. |
| Passage Frozen |
16 |
| Split Ratio |
1:6 |
| 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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