Cellosaurus cell line ISFi003-A (CVCL

Cellosaurus ISFi003-A (CVCL_C1G2)

Cross-references
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; 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 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)
Cell line databases/resources	hPSCreg; ISFi003-A
Biological sample resources	BioSamples; SAMEA13882711
Encyclopedic resources	Wikidata; Q114311767
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5