ID   HELPi001-A
AC   CVCL_WN17
SY   BS-TL-1
DR   BioSamples; SAMEA5728929
DR   hPSCreg; HELPi001-A
DR   Wikidata; Q94101557
RX   PubMed=31426022;
CC   From: Help Stem Cell Innovations Co., Ltd; Nanjing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3604; FBN2; Simple; p.Ile243Thr (c.728T>C); ClinVar=VCV000137358; Zygosity=Heterozygous (PubMed=31426022).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129865; Congenital contractural arachnodactyly
DI   ORDO; Orphanet_115; Congenital contractural arachnodactyly
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31426022; DOI=10.1016/j.scr.2019.101535;
RA   Liu H., Tsui Y.-P., Wang J.-X., Su C., Zheng R., Shao Y.-F., Ni B.-Q.;
RT   "Establishment of a Beals syndrome patient-derived human induced
RT   pluripotent stem cell line HELPi001-A.";
RL   Stem Cell Res. 40:101535-101535(2019).
//