ID   ISFi004-A
AC   CVCL_C1G3
SY   F1
DR   BioSamples; SAMEA13883019
DR   hPSCreg; ISFi004-A
DR   Wikidata; Q114311768
RX   PubMed=30858616;
CC   From: Institute for Stem Cell Research, Helmholtz Zentrum Munchen; Neuherberg; Germany.
CC   Sequence variation: Mutation; HGNC; 23109; FAT4; Simple; p.Cys4161Phe (c.12482G>T) (p.Cys4159Phe, c.12476G>T); ClinVar=VCV000089004; Zygosity=Heterozygous (PubMed=30858616).
CC   Sequence variation: Mutation; HGNC; 23109; FAT4; Simple; p.Cys4400Tyr (c.13199G>A) (p.Cys4398Tyr, c.13193G>A); ClinVar=VCV000089005; Zygosity=Heterozygous (PubMed=30858616).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C188994; Van Maldergem syndrome 2
DI   ORDO; Orphanet_314679; Cerebrofacioarticular syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=30858616; DOI=10.1038/s41591-019-0371-0;
RA   Klaus J., Kanton S., Kyrousi C., Ayo-Martin A.C., Di Giaimo R.,
RA   Riesenberg S., O'Neill A.C., Camp J.G., Tocco C., Santel M., Rusha E.,
RA   Drukker M., Schroeder M., Gotz M., Robertson S.P., Treutlein B.,
RA   Cappello S.;
RT   "Altered neuronal migratory trajectories in human cerebral organoids
RT   derived from individuals with neuronal heterotopia.";
RL   Nat. Med. 25:561-568(2019).
//