GM26113
Fibroblast from Skin, Skin
Description:
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1
PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Skin
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Race
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Asiatic Indian
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Ethnicity
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Indian
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Country of Origin
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USA
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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[18]
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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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| PDL at Freeze |
2.97 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
PIGN |
| Chromosomal Location |
18q21.33 |
| Allelic Variant 1 |
; Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
| Identified Mutation |
c.1434_c.1434+1delGGinsAA |
| |
| Gene |
PIGN |
| Chromosomal Location |
18q21.33 |
| Allelic Variant 2 |
; Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
| Identified Mutation |
c.1434_c.1434+1delGGinsAA |
| Remarks |
Clinically affected; onset of symptoms at birth; diagnosed by neurologist and geneticist at 3 months of age; deceased at 8 months of age; dysmorphic features; large mouth; seizures; pontocerebellar hypoplasia; dysgenesis of the corpus callosum; relative microcephaly; severe hypotonia; pelviectasis kidney; developmental delay; abnormal movements; eyes: not fixing or following, complains of vision issues or eye injury; complains of tremors; possible normal microarray (1-22)x2,(XY),x1; whole exome sequencing revealed donor was homozygous for a c.1434_c.1434+1delGGinsAA pathogenic variant in the PIGN gene; donor was also compound heterozygous for the following variants of unknown significance in the RYR3 gene: c.4562G>C (p.W1521S) and c.12389A>C (p.E4130A); management includes: physical therapy and occupational therapy; whole exome sequencing also revealed that parents are heterozygous for c.1434_c.1434+1delGGinsAA and are asymptomatic carriers (not in repository); consanguinity denied. |
| Cumulative PDL at Freeze |
2.97 |
| Passage Frozen |
3 |
| Split Ratio |
1:7 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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