ID   CRICKi001-A
AC   CVCL_A5EU
SY   iFCI001
DR   BioSamples; SAMEA13299074
DR   hPSCreg; CRICKi001-A
DR   Wikidata; Q107114720
RX   PubMed=33799280;
CC   From: The Francis Crick Institute Limited; London; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11100; SMARCA4; Simple; p.Arg1203Cys (c.3607C>T); Zygosity=Heterozygous; Note=De novo mutation (PubMed=33799280).
CC   Derived from site: In situ; Hair root; UBERON=UBERON_0000329.
CC   Cell type: Keratinocyte; CL=CL_0000312.
DI   NCIt; C88412; Autism spectrum disorder
DI   NCIt; C35321; Coffin-Siris syndrome
DI   ORDO; Orphanet_1465; Coffin-Siris syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5-9Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 05-10-23; Version: 7
//
RX   PubMed=33799280; DOI=10.1016/j.scr.2021.102304;
RA   Devito L.G., Healy L.E., Mohammed S., Guillemot F., Dias C.;
RT   "Generation of an iPSC line (CRICKi001-A) from an individual with a
RT   germline SMARCA4 missense mutation and autism spectrum disorder.";
RL   Stem Cell Res. 53:102304-102304(2021).
//