GM04899
Fibroblast from Skin, Unspecified
Description:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Unspecified
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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, Unspecified
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Race
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White
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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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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,XX
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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 |
2 |
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| Gene |
IKBKAP |
| Chromosomal Location |
9q31 |
| Allelic Variant 1 |
603722.0001; FAMILIAL DYSAUTONOMIA |
| Identified Mutation |
c.2204+6T>C (IVS20+6T>C); Slaugenhaupt et al. (2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site mutation (IVS20+6T-C) which leads to deletion of exon 20 from mRNA. Haplotype analyses were consistent with a common founder. Anderson et al. (2001) identified the same mutation in Ashkenazi Jewish patients with familial dysautonomia. |
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| Gene |
IKBKAP |
| Chromosomal Location |
9q31 |
| Allelic Variant 2 |
603722.0001; FAMILIAL DYSAUTONOMIA |
| Identified Mutation |
c.2204+6T>C (IVS20+6T>C); Slaugenhaupt et al. (2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site mutation (IVS20+6T-C) which leads to deletion of exon 20 from mRNA. Haplotype analyses were consistent with a common founder. Anderson et al. (2001) identified the same mutation in Ashkenazi Jewish patients with familial dysautonomia. |
| Remarks |
Clinically affected; emotional lability; episodes of emesis; vibration and proprioceptive abnormalities; decreased pain sensation; orthostatic hypotension; decreased lacrimation; donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene; this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA; mother is GM04895; father is GM04897; same donor as GM04900 lymphocyte. |
| Even A, Morelli G, Turchetto S, Shilian M, Bail RL, Laguesse S, Krusy N, Brisker A, Brandis A, Inbar S, Chariot A, Saudou F, Dietrich P, Dragatsis I, Brone B, Broix L, Rigo JM, Weil M, Nguyen L, ATP-citrate lyase promotes axonal transport across species Nature communications12:5878 2020 |
| PubMed ID: 34620845 |
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| Bruun GH1, Bang JM1, Christensen LL1, Brøner S1, Petersen US1, Guerra B1, Grønning AG1, Doktor TK1, Andresen BS, Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells Nucleic Acids Research12:5878 2018 |
| PubMed ID: 29762696 |
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| Donadon I1, Pinotti M2, Rajkowska K1, Pianigiani G1, Barbon E3, Morini E4, Motaln H5, Rogelj B5,6,7, Mingozzi F3,8, Slaugenhaupt SA4, Pagani F1., Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.27(14):2466-2476 2018 |
| PubMed ID: 29701768 |
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| Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA, ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia American journal of human genetics104:638-650 2018 |
| PubMed ID: 30905397 |
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| Sinha R, Kim YJ, Nomakuchi T, Sahashi K, Hua Y, Rigo F, Bennett CF, Krainer AR, Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice Nucleic acids research46:4833-4844 2017 |
| PubMed ID: 29672717 |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| 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 |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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