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Cellosaurus LCHi002-A (CVCL_A6XP)

[Text version]
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; 2962; DYNC2H1; Simple; p.Thr3836Ile (c.11507C>T); Zygosity=Heterozygous (from autologous cell line LCHi002-A).
  • Mutation; HGNC; 7983; NR5A1; Unexplicit; Ex3del and part of Ex4; Zygosity=Heterozygous (from autologous cell line LCHi002-A).
  • Mutation; HGNC; 8783; PDE4D; Simple; p.Gly93Ser (c.277G>A); Zygosity=Heterozygous (from autologous cell line LCHi002-A).
  • Mutation; 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
Cross-references
Cell line databases/resources hPSCreg; LCHi002-A - Discontinued
Encyclopedic resources Wikidata; Q107115618
Entry history
Entry creation20-May-2021
Last entry update05-Oct-2023
Version number4