Cellosaurus cell line LIBDi012-A (CVCL

Cross-references
Cell line name	LIBDi012-A
Synonyms	PTHS1023.05
Accession	CVCL_A4WN
Resource Identification Initiative	To cite this cell line use: LIBDi012-A (RRID:CVCL_A4WN)
Comments	From: Lieber Institute for Brain Development; Baltimore; USA. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg385Ter (c.1153C>T); ClinVar=VCV000007372; Zygosity=Heterozygous (PubMed=32971458).
Disease	Pitt-Hopkins syndrome (NCIt: C129872) Pitt-Hopkins syndrome (ORDO: Orphanet_2896)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=32971458; DOI=10.1016/j.scr.2020.102001; PMCID=PMC7592084 Sripathy S.R., Wang Y., Moses R.L., Fatemi A., Batista D.A.S., Maher B.J. Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins syndrome. Stem Cell Res. 48:102001-102001(2020)
Cell line databases/resources	hPSCreg; LIBDi012-A
Encyclopedic resources	Wikidata; Q107115649
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6