GM26093
Fibroblast from Skin, Hip
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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Hip
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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, Hip
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Race
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More than one race
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Chinese/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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Confirmation
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Clinical summary/Case history
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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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| PDL at Freeze |
6.35 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
c.9619-2A>G |
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| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
p.His8159GlnfsStop8; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
c.24473_24476dupAACA |
| Remarks |
Clinically affected; symptom onset at birth; achieved/maintained motor functions: held head up without assistance, turned in bed without assistance at age 6 months, sat without assistance at age 8 months, stood without assistance at age 1.5 years, walked with assistance at age 2 years, walked indoors and outdoors unassisted at age 2 years old; gene sequencing of TPM3,TPM2 and NEB genes identified heterozygous mutation defined as c.9619-2A>G near the junction of intron 66 and exon 67 of the NEB gene; subject is also heterozygous for mutation defined as c.24473_24476dupAACA which is predicted to result in a frame shift and premature protein termination (p.His8159GlnfsStop8); respiratory support used during perinatal period; lymphoblast is GM25172. |
| Cumulative PDL at Freeze |
6.35 |
| Passage Frozen |
2 |
| Split Ratio |
1:7 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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