Cellosaurus cell line CHOPi005-A (CVCL

Cross-references
Cell line name	CHOPi005-A
Synonyms	LD0638.0A
Accession	CVCL_B3NQ
Resource Identification Initiative	To cite this cell line use: CHOPi005-A (RRID:CVCL_B3NQ)
Comments	From: Children's Hospital of Philadelphia; Philadelphia; USA. Population: Asian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:20774; TUBB4A; Simple; p.Asp249Asn (c.745G>A); ClinVar=VCV000050985; Zygosity=Heterozygous (PubMed=37003180).
Disease	Hypomyelinating leukodystrophy-6 (NCIt: C183310) Hypomyelination with atrophy of basal ganglia and cerebellum (ORDO: Orphanet_139441)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	9Y
Category	Induced pluripotent stem cell
Publications	PubMed=37003180; DOI=10.1016/j.scr.2023.103083 Akshata A. Almad, Luis Garcia, Asako Takanohashi, Alyssa L. Gagne, Wen-Li Yang, Jean Ann Maguire, Deborah L. French, Adeline Vanderver; Generation of three induced pluripotent stem cell lines from individuals with hypomyelination with atrophy of basal ganglia and cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A. Stem Cell Res. 69:103083-103083(2023)
Cell line databases/resources	hPSCreg; CHOPi005-A
Biological sample resources	BioSamples; SAMEA9693917
Encyclopedic resources	Wikidata; Q110432716
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	6