ID   SHETi001-A
AC   CVCL_A1TF
SY   SHCHjhj-2A
DR   BioSamples; SAMEA7655489
DR   hPSCreg; SHETi001-A
DR   Wikidata; Q105511074
RX   PubMed=33517121;
CC   From: Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 16974; SRCAP; Simple; p.Phe151Cysfs*71 (c.452_453del); Zygosity=Heterozygous (PubMed=33517121).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C175241; Floating-Harbor syndrome
DI   ORDO; Orphanet_2044; Floating-Harbor syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y4M
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33517121; DOI=10.1016/j.scr.2021.102182;
RA   Hou C.-L., Xie L.-J., Qiu Q.-Z., Lin H., Liu W., Sun X.-M., Zhang Y.-W.,
RA   Xu M., Li Y., Xiao T.-T.;
RT   "Generation of an induced pluripotent stem cell line from a Chinese
RT   Han infant with floating-harbor syndrome accompanied with dilated
RT   cardiomyopathy.";
RL   Stem Cell Res. 51:102182-102182(2021).
//