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Cellosaurus ISFi003-A (CVCL_C1G2)

[Text version]
Cell line name ISFi003-A
Synonyms D2
Accession CVCL_C1G2
Resource Identification Initiative To cite this cell line use: ISFi003-A (RRID:CVCL_C1G2)
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; 13681; DCHS1; Simple; p.Thr848Asnfs*30 (c.2543delC); ClinVar=VCV000088998; Zygosity=Homozygous (PubMed=30858616).
Disease Van Maldergem syndrome 1 (NCIt: C188993)
Cerebrofacioarticular syndrome (ORDO: Orphanet_314679)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=30858616; DOI=10.1038/s41591-019-0371-0
Klaus J., Kanton S., Kyrousi C., Ayo-Martin A.C., Di Giaimo R., Riesenberg S., O'Neill A.C., Camp J.G., Tocco C., Santel M., Rusha E., Drukker M., Schroeder M., Gotz M., Robertson S.P., Treutlein B., Cappello S.
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; ISFi003-A
Biological sample resources BioSamples; SAMEA13882711
Encyclopedic resources Wikidata; Q114311767
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4