Cellosaurus cell line LCHi002-A (CVCL

Cross-references
Cell line name	LCHi002-A
Synonyms	MLAR-005.03
Accession	CVCL_A6XP
Resource Identification Initiative	To cite this cell line use: LCHi002-A (RRID:CVCL_A6XP)
Comments	From: Lurie Children's Hospital of Chicago; Chicago; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2962; DYNC2H1; Simple; p.Thr3836Ile (c.11507C>T); Zygosity=Heterozygous (from autologous cell line LCHi002-A). Mutation; HGNC; HGNC:7983; NR5A1; Unexplicit; Ex3del and part of Ex4; Zygosity=Heterozygous (from autologous cell line LCHi002-A). Mutation; HGNC; HGNC:8783; PDE4D; Simple; p.Gly93Ser (c.277G>A); Zygosity=Heterozygous (from autologous cell line LCHi002-A). Mutation; HGNC; HGNC:16700; ZFPM2; Simple; p.Asn1087Ser (c.3260A>G); Zygosity=Heterozygous (from autologous cell line LCHi002-A).
Disease	Sexual differentiation disorder (NCIt: C103186) Disorder of sex development (ORDO: Orphanet_90771)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A6XQ ! LCHi002-B
Sex of cell	Male
Age at sampling	15-16Y
Category	Induced pluripotent stem cell
Cell line databases/resources	hPSCreg; LCHi002-A - Discontinued
Encyclopedic resources	Wikidata; Q107115618
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5