GM26261
Fibroblast from Skin, Thigh
Description:
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample |
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Biopsy Source
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Thigh
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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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Sample Source
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Fibroblast from Skin, Thigh
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Race
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More than one race
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Ethnicity
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Hispanic/Latino
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Ethnicity
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Polish, Dominican, Puerto Rican, Jamaican, CostaRi
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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
|
Y
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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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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 |
5.62 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
p.Y8107NfsX74; |
| Identified Mutation |
c.24318_24319insAA |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 2 |
p.W5754X; |
| Identified Mutation |
C.17262 G>A |
| |
| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
; NEMALINE MYOPATHY |
| Identified Mutation |
GLU7VAL |
| Remarks |
Clinically affected; normal MRI/CT scan of the brain; motor functions achieved: holding head up without assistance (maintained with difficulty) and sitting without assistance; motor functions never achieved: walking without assistance and running; diagnosis confirmed by WES; pathogenic variants in NEB: c.24318_24319insAA (p.Y8107NfsX74) inherited from the mother and c.17262G>A (p.W5754X) inherited from the father; pathogenic variant (inherited from the father and possibly associated with phenotype) in the HBB gene is: c.20A>T (p.E7V) the unaffected parents are GM26262 (mother) and GM26263 (father); same subject as GM26260 (lymph) and GM29112 (iPSC) |
| Cumulative PDL at Freeze |
5.62 |
| Passage Frozen |
2 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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