| Cell line name |
C9-1B |
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| Accession |
CVCL_ZJ40 |
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| Resource Identification Initiative |
To cite this cell line use: C9-1B (RRID:CVCL_ZJ40) |
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| Comments |
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Heterozygous; Note=Has 185, 540 or 770 repeats due to instability of the expanded allele during iPSC reprogramming (PubMed=33837088).
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| Disease |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Female |
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| Age at sampling |
59Y |
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| Category |
Induced pluripotent stem cell |
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| Publications | PubMed=33837088; DOI=10.1126/sciadv.abg3013; PMCID=PMC8034861
Laura Fumagalli, Florence Lily Young, Steven Boeynaems, Mathias De Decker, Arpan R. Mehta, Ann Swijsen, Raheem Fazal, Wen-Ting Guo, Matthieu Moisse, Jimmy Beckers, Lieselot Dedeene ...Show all 27 authors... , Bhuvaneish Thangaraj Selvaraj, Tijs Vandoorne, Vanesa Madan, Marka van Blitterswijk, Denitza Raitcheva, Alexander McCampbell, Koen Poesen, Aaron D. Gitler, Philipp Koch, Pieter Vanden Berghe, Dietmar Rudolf Thal, Catherine M. Verfaillie, Siddharthan Chandran, Ludo Van Den Bosch, Simon L. Bullock, Philip Van Damme; Show fewer authors
C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility.
Sci. Adv. 7:eabg3013.1-eabg3013.21(2021) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q98125603
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| Entry history |
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| Entry creation | 02-Jul-2020 |
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| Last entry update | 14-Aug-2025 |
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| Version number | 10 |
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