Cellosaurus cell line HELPi001-A (CVCL

Cross-references
Cell line name	HELPi001-A
Synonyms	BS-TL-1
Accession	CVCL_WN17
Resource Identification Initiative	To cite this cell line use: HELPi001-A (RRID:CVCL_WN17)
Comments	From: Help Stem Cell Innovations Co., Ltd; Nanjing; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3604; FBN2; Simple; p.Ile243Thr (c.728T>C); ClinVar=VCV000137358; Zygosity=Heterozygous (PubMed=31426022).
Disease	Congenital contractural arachnodactyly (NCIt: C129865) Congenital contractural arachnodactyly (ORDO: Orphanet_115)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	35Y
Category	Induced pluripotent stem cell
Publications	PubMed=31426022; DOI=10.1016/j.scr.2019.101535 Liu H., Tsui Y.-P., Wang J.-X., Su C., Zheng R., Shao Y.-F., Ni B.-Q. Establishment of a Beals syndrome patient-derived human induced pluripotent stem cell line HELPi001-A. Stem Cell Res. 40:101535-101535(2019)
Cell line databases/resources	hPSCreg; HELPi001-A
Biological sample resources	BioSamples; SAMEA5728929
Encyclopedic resources	Wikidata; Q94101557
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	9