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Cellosaurus ISFi004-A (CVCL_C1G3)

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Cell line name ISFi004-A
Synonyms F1
Accession CVCL_C1G3
Resource Identification Initiative To cite this cell line use: ISFi004-A (RRID:CVCL_C1G3)
Comments From: Institute for Stem Cell Research, Helmholtz Zentrum Munchen; Neuherberg; Germany.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:23109; FAT4; Simple; p.Cys4161Phe (c.12482G>T) (p.Cys4159Phe, c.12476G>T); ClinVar=VCV000089004; Zygosity=Heterozygous (PubMed=30858616).
  • Mutation; HGNC; HGNC:23109; FAT4; Simple; p.Cys4400Tyr (c.13199G>A) (p.Cys4398Tyr, c.13193G>A); ClinVar=VCV000089005; Zygosity=Heterozygous (PubMed=30858616).
Disease Van Maldergem syndrome 2 (NCIt: C188994)
Cerebrofacioarticular syndrome (ORDO: Orphanet_314679)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

PubMed=30858616; DOI=10.1038/s41591-019-0371-0
Johannes Klaus, Sabina Kanton, Christina Kyrousi, Ane Cristina Ayo-Martin, Rossella Di Giaimo, Stephan Riesenberg, Adam C. O'Neill, Jarrett Gray Camp, Chiara Tocco, Malgorzata Santel, Ejona Rusha ...Show all 17 authors... , Micha Drukker, Mariana Schroeder, Magdalena Gotz, Stephen P. Robertson, Barbara Treutlein, Silvia Cappello; Show fewer authors
Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia.
Nat. Med. 25:561-568(2019)

Cross-references
Cell line databases/resources hPSCreg; ISFi004-A
Biological sample resources BioSamples; SAMEA13883019
Encyclopedic resources Wikidata; Q114311768
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5